We investigated bending moment resistance under diagonal compression load of comer doweled joints with plywood members. Joint members were made of ll-ply hardwood plywood of 19 mm thickness. Dowels were fabricated of ...We investigated bending moment resistance under diagonal compression load of comer doweled joints with plywood members. Joint members were made of ll-ply hardwood plywood of 19 mm thickness. Dowels were fabricated of Beech and Hornbeam species. Their diameters （6, 8 and 10 mm） and depths of penetration （9, 13 and 17 ram） in joint members were chosen variables in our experiment. By increasing the connector＇s diameter from 6 to 8 mm, the bending moment resistance under diagonal compressive load was increased, while it decreased when the diameter was increased from 8 to 10 mm. The bending moment re- sistance under diagonal compressive load was increased by increasing the dowel＇s depth of penetration. Joints made with dowels of Beech had higher resistance than dowels of Hornbeam. Highest resisting moment （45.18 N.m） was recorded for joints assembled with 8 mm Beech dowels penetrating 17 mm into joint members Lowest resisting moment （13.35 N.m） was recorded for joints assembled with 6 mm Hornbeam dowels and penetrating 9 mm into joint members.展开更多
Progressive familial intrahepatic cholestasis type 3 is caused by a mutation in the ATP-binding cassette, subfamily B, member 4 (ABCB4) gene encoding multidrug resistance protein 3. A 32-year-old woman with a history ...Progressive familial intrahepatic cholestasis type 3 is caused by a mutation in the ATP-binding cassette, subfamily B, member 4 (ABCB4) gene encoding multidrug resistance protein 3. A 32-year-old woman with a history of acute hepatitis at age 9 years was found to have jaundice during pregnancy in 2008, and was diagnosed as having intrahepatic cholestasis of pregnancy. In 2009, she underwent cholecystectomy for gallstones and chronic cholecystitis. However, itching and jaundice did not resolve postoperatively. She was admitted to our hospital with fatigue, jaundice, and a recently elevated γ-glutamyl transpeptidase level. Liver biopsy led to the diagnosis of biliary cirrhosis with ductopenia. Genetic testing revealed a pathogenic heterozygous mutation, ex13 c.1531G > A (p.A511 T), in the ABCB4 gene. Her father did not carry the mutation, but her mother's brother carried the heterozygous mutation. We made a definitivediagnosis of familial intrahepatic cholestasis type 3. He symptoms and liver function improved after 3 mo o treatment with ursodeoxycholic acid.展开更多
Type II autosomal dominant osteopetrosis(ADO2), which is the most common form of osteopetrosis, is caused by heterozygous mutations in the chloride channel 7(CLCN7) gene. The osteopetrosis of ADO2 has been attributed ...Type II autosomal dominant osteopetrosis(ADO2), which is the most common form of osteopetrosis, is caused by heterozygous mutations in the chloride channel 7(CLCN7) gene. The osteopetrosis of ADO2 has been attributed to hypofunctional osteoclasts. The mechanism underlying the abnormality in osteoclast function remains largely unknown. This study was designed to investigate gene mutations and osteoclast function in a case that was clinically diagnosed as ADO2. Genomic DNA was extracted from blood samples of this patient, and the 25 exons of CLCN7 were amplified. Peripheral blood from the ADO2 subject and a healthy age- and sex-matched control was used to evaluate osteoclastogenesis, osteoclast morphology, and bone resorption. Analysis of DNA from the patient showed a germline heterozygous missense mutation,c.1856C>T(p.P619L), in exon 20 of CLCN7. A similar homozygous mutation at this site was previously reported in a patient with autosomal recessive osteopetrosis. When cultured, the peripheral blood mononuclear cells(PBMCs) from the ADO2 patient spontaneously differentiated into mature osteoclasts in vitro. The ADO2 patient’s PBMCs formed enhanced, but heterogeneous, osteoclasts in both the presence and absence of macrophage-colony stimulating factor, and nuclear factor-?B ligand. Bone resorption was reduced in the ADO2 patient’s osteoclasts, which exhibited aberrant morphology and abnormal distribution of integrin avβ3. Gene analysis found increased c-fos expression and reduced Rho A and integrin beta 3expression in ADO2 cells. In conclusion, our data suggest that enhanced, heterogeneous osteoclast induction may be an intrinsic characteristic of ADO2.展开更多
BACKGROUND Most occurrences of type 1 diabetes cases in any population are sporadic rather than familial.Hence,type 1 diabetes among siblings is a rare occurrence.Even more rare is for three or more siblings to develo...BACKGROUND Most occurrences of type 1 diabetes cases in any population are sporadic rather than familial.Hence,type 1 diabetes among siblings is a rare occurrence.Even more rare is for three or more siblings to develop type 1 diabetes.In this report,we describe a case of a Nigerian family in which type 1 diabetes occurred in three siblings among four children with neither parent having diabetes.All three siblings are positive for glutamic acid decarboxylase and anti-islet cell antibodies.CASE SUMMARY There were four siblings(three males and one female)born to a couple without a diagnosis of diabetes.The eldest child(male)was diagnosed with diabetes at the age of 15,the second child(female)was diagnosed at the age of 11 and the fourth child(male)was diagnosed at the age of 9.All the siblings presented with similar osmotic symptoms and were diagnosed of diabetic ketoacidosis.All of them had markedly reduced serum C-peptide levels with high levels of glutamic acid decarboxylase and insulinoma-associated protein-2 antibodies.We could not perform genetic analysis of HLA-DR,DQ and CTLA4 in the siblings as well as the parents;hence haplotypes could not be characterized.Both parents of the probands have no prior history of diabetes,and their blood glucose and glycated hemoglobin levels were within normal ranges.The third child(male)has no history suggestive of diabetes,and his blood glucose and glycated hemoglobin have remained within normal ranges.CONCLUSION Although the occurrence of type 1 diabetes in proband siblings is uncommon,screening for diabetes among siblings especially with islet autoantibodies should be encouraged.展开更多
BACKGROUND Pseudohypoparathyroidism type Ia(PHP Ia) is a rare hereditary syndrome, and patients with early PHP Ia are generally not diagnosed based on the presentation of cutaneous nodules as the main clinical feature...BACKGROUND Pseudohypoparathyroidism type Ia(PHP Ia) is a rare hereditary syndrome, and patients with early PHP Ia are generally not diagnosed based on the presentation of cutaneous nodules as the main clinical feature. Here, we describe a Chinese boy with PHP Ia in whom the main clinical feature was cutaneous nodules, and the patient exhibited a novel GNAS mutation.CASE SUMMARY A 5-year-old boy presented with a 5-year history of cutaneous nodules scattered over his entire body. The patient had a short stature, round face, short neck, and slightly flattened nose;he also had multiple hard papules and cutaneous nodules scattered over his entire body. The patient had a significantly elevated parathyroid hormone level. His serum calcium level was reduced, while his serum phosphorus level was increased and his serum thyroid-stimulating hormone level was elevated. Skin biopsy showed osteoma cutis in subcutaneous tissue. Sanger sequencing revealed a frameshift mutation, c.399 del T(p.Ser133 Argfs*2) in exon 5 of the GNAS gene. The patient was diagnosed with PHP Ia and subclinical hypothyroidism. He was given 1,25-dihydroxyvitamin D,calcium carbonate, and synthetic L-thyroxine. After 3 months of treatment, the patient’s parathyroid hormone level decreased, and his serum calcium and serum phosphorus levels were normal. Moreover, his thyroid-stimulating hormone level decreased.CONCLUSION These findings can help dermatologists to diagnose PHP Ia in patients with cutaneous nodules as the main early clinical feature.展开更多
BACKGROUND Gastrointestinal stromal tumors(GISTs) associated with neurofibromatosis are uncommon compared to their gastrointestinal counterparts. Patients with neurofibromatosis type 1(NF-1) have an increased risk of ...BACKGROUND Gastrointestinal stromal tumors(GISTs) associated with neurofibromatosis are uncommon compared to their gastrointestinal counterparts. Patients with neurofibromatosis type 1(NF-1) have an increased risk of developing gastrointestinal tumors, including rare types such as GIST.CASE SUMMARY A 60-year-old male Chinese patient was diagnosed with NF-1 10 years ago and presented with upper abdominal discomfort and black stools. Endoscopic ultrasonography and an enhanced abdominal computed tomography scan revealed a mass located 4 cm from the muscular layer of the descending duodenum. A 59-year-old Chinese woman who was diagnosed with NF-1 25 years ago presented with sudden unconsciousness and black stools. Multiple masses in the duodenum were noted by echogastroscopy and an enhanced abdominal computed tomography scan. Both patients presented with cutaneous neurofibromas. The histologic examination of tumors from both patients revealed spindle cells and low mitotic activity. Immunohistochemically, the tumor cells showed strong positivity for KIT(CD117), DOG-1, CD34, and Dehydrogenase Complex Subunit B, and negativity for SMA, desmin, S-100, and β-catenin. None of the six tumors from two patients had KIT exon 9, 11, 13, or 17 or platelet-derived growth factor receptor α exon 12 or 18 mutation, which is a typical finding for sporadic GISTs. None of the six tumors from the two patients had a BRAFV600 E mutation. The patients were alive and well during the follow-up period(range:0.6-5 yr).CONCLUSION There have been only a few previous reports of GISTs associated with NF-1.Although GISTs associated with NF-1 have morphologic and immunohistochemical similarities with GISTs, the pathogenesis, incidence,genetic background, and prognosis are not completely known. A medical history of NF-1 in a patient who has gastrointestinal bleeding or anemia and an intraabdominal mass with nonspecific computed tomography features may help in diagnosing GIST by virtue of the well-known association of these two entities.Molecular genetic studies of cases indicated that GISTs in NF-1 patients have a different pathogenesis than sporadic GISTs.展开更多
Background: Neuromuscular choristoma is a rare benign peripheral neuropathy composed of ectopic mature muscle fibers and nerve bundles, usually involving large nerve roots or trunks, such as brachial plexus and sciati...Background: Neuromuscular choristoma is a rare benign peripheral neuropathy composed of ectopic mature muscle fibers and nerve bundles, usually involving large nerve roots or trunks, such as brachial plexus and sciatic nerve. NMC usually occurs in childhood, and some cases are congenital. Here, we report a case of adult orbital intraconal NMC. The resected specimens were fish-like and tough. Histological pathology suggested that the specimen was composed of mature skeletal muscle tissue interspersed with peripheral nerve bundles. Histopathological examination revealed that the left orbital mass was composed of mature skeletal muscle tissue interspersed with surrounding nerve fascicles. Immunohistochemistry: S-100 protein was positive. In general, postoperative histopathological examination ultimately determined the diagnosis of NMC in the intraconal region of the orbital muscle. Case Presentation: A 51-year-old female patient was admitted to the hospital due to periocular pain for 2 weeks. Orbital CT scan showed an irregular soft tissue density in the left orbital muscle cone area, and the boundary between the local and the left lateral rectus muscle was unclear. Magnetic resonance imaging showed that there was an oval abnormal signal in the posterior lateral space of the left eyeball, with a clear edge and a size of about 22 mm × 8 mm. The boundary between the local area and the left lateral rectus muscle was unclear, and the optic nerve was compressed to the right side. The T1 WI showed low signal, T2-FS showed high and low mixed signal, and the enhanced scan showed continuous obvious enhancement. Eventually, the patient underwent surgical resection of the lesion. Conclusions: NMC is a rare benign peripheral neuropathy, especially NMC in the orbital muscle cone. There is no specificity in clinical and imaging examinations. Accurate diagnosis before surgical resection is very challenging for clinicians and radiologists. Importantly, we can differentiate orbital NMC from other types of orbital tumors.展开更多
BACKGROUND Neurofibromatosis type Ⅰ(NF1) is the most frequent subtype of neurofibromatosis. Its related tumor-suppressor syndromes are characterized by a predisposition to multiple tumor types and other disorder pres...BACKGROUND Neurofibromatosis type Ⅰ(NF1) is the most frequent subtype of neurofibromatosis. Its related tumor-suppressor syndromes are characterized by a predisposition to multiple tumor types and other disorder presentations. In addition, the incidence of tumors is much higher in patients with neurofibromatosis type Ⅰ. However, there are very few reports at home and abroad on this topic. Here, we present a case of NF1 with spindle cell sarcoma.CASE SUMMARY A 50-year-old male was found to have a right axillary mass for 20 years.Specialist examination found cafe-au-lait spots on many parts of the skin,rounded nodules in the skin, a bulge in the right armpit, touching a lump(10 cm× 6 cm, hard, unclear boundary, poor mobility, local tenderness). The anterior side of the thigh felt weakened on the opposite side;in the right groin a swollen lymph node(hard, clear border, good mobility, local tenderness). According to the results of positron emission tomography/computed tomography, puncture pathology and immunohistochemistry, genetic testing, a diagnosis of NF1 with spindle cell sarcoma was confirmed. According to the genetic testing result, the patient was given a targeted treatment with crizotinib.CONCLUSION Surgery, chemotherapy and radiotherapy are the main treatment methods of NF1. However, with the continuous progress of molecular biology research,molecular targeted therapy may bring benefits for patients.展开更多
ABO blood type has been associated with risk of several malignancies. However, results are not consistent. In this population-based case-control study including 1204 incident endometrial cancer cases and 1212 populati...ABO blood type has been associated with risk of several malignancies. However, results are not consistent. In this population-based case-control study including 1204 incident endometrial cancer cases and 1212 population controls, we examined the association of self-reported serologic blood type with endometrial cancer risk using a logistic regression model. Women with endometrial cancer were more likely to have blood type A. Compared to women with blood type O, the adjusted odds ratios for endometrial cancer were 1.00 [95% confidence interval (CI), 0.79-1.28] for type B, 1.24 (95% CI, 0.90-1.69) for type AB, and 1.50 (95% CI, 1.19-1.90) for type A. A significant dose-response relationship was observed for cancer risk and level of antigen A (P for trend = 0.0003). The positive association of blood type A with cancer risk was observed regardless of menopausal status, body mass index, oral contraceptive use, or family cancer history. Our results suggest that ABO blood type may be involved in the development of endometrial cancer.展开更多
We have previously reported the high levels of glutamic acid decarboxylase 65 autoantibodies(GAD65A)in patients with type 1 diabetes and autoimmune thyroid disease.Here we describe a 32-year-old Japanese female with a...We have previously reported the high levels of glutamic acid decarboxylase 65 autoantibodies(GAD65A)in patients with type 1 diabetes and autoimmune thyroid disease.Here we describe a 32-year-old Japanese female with a thirteen-year history of type 1 diabetes whose levels of GAD65A were elevated just after the emergence of anti-thyroid autoimmunity.At 19 years of age,she developed diabetic ketoacidosis and was diagnosed with type 1 diabetes.She had GAD65A,insulinoma-associated antigen-2 autoantibodies(IA-2A),and zinc transporter-8 autoantibodies(ZnT8A),but was negative for antibodies to thyroid peroxidase(TPOAb)and thyroglobulin(TGAb)at disease onset.ZnT8A and IA-2A turned negative 2-3 years after the onset,whereas GAD65A were persistently positive at lower level(approximately 40 U/mL).However,just after the emergence of TGAb at disease duration of 12.5 years,GAD65A levels were reelevated up to5717 U/mL in the absence of ZnT8A and IA-2A.Her thyroid function was normal and TPOAb were consistently negative.She has a HLA-DRB1*03:01/*04:01-DQB1*02:01/*03:02 genotype.Persistent positivity for GAD65A might be associated with increased risk to develop anti-thyroid autoimmunity.展开更多
1 Introduction Nigella sativa, known as black seed, has analgesic, anti-inflammatory, antioxidant and anticancer effects. It has been shown to reduce the development of kidney failure when given prior to the use of ne...1 Introduction Nigella sativa, known as black seed, has analgesic, anti-inflammatory, antioxidant and anticancer effects. It has been shown to reduce the development of kidney failure when given prior to the use of nephrotoxic drugs particularly due to its antioxidant action. However, as far as the authors could ascertain, there is no human study in literature showing these effects. Here we present a case of acute renal failure after the use of N. sativa, rather than exhibiting antioxidant or antidiabetic effects.展开更多
BACKGROUND We present a rare case of plasma cell type of Castleman's disease(CD) involving only the right renal sinus in a 65-year-old woman with a duplex collecting system(DCS).CASE SUMMARY The patient presented ...BACKGROUND We present a rare case of plasma cell type of Castleman's disease(CD) involving only the right renal sinus in a 65-year-old woman with a duplex collecting system(DCS).CASE SUMMARY The patient presented with a right renal sinus lesion after renal ultrasonography.Subsequent abdominal enhanced computed tomography(CT) and magnetic resonance imaging(MRI) of the kidneys showed DCS and a soft tissue mass with mild enhancement at the lower right renal sinus. The lesion was suspected to be a malignant renal pelvic carcinoma. Hence, the patient underwent a right radical nephrectomy. Histological examination revealed hyperplastic lymphoid follicles in the renal sinus. A detailed review of the patient's CT and MRI images and a literature review suggested that the lesion was hypointense on T2-weighted images and hyperintense on diffusion-weighted image manifestations, and showed mild enhancement, which distinguished the plasma cell type of CD from many other renal sinus lesions. Furthermore, peripelvic soft tissue masses with a smooth internal surface of the renal pelvis were on imaging findings, which suggests that the urinary tract epithelial system is invulnerable and can be used to differentiate the plasma cell type of CD from malignant lymphoma with a focally growth pattern to some extent.CONCLUSION Preoperative diagnosis is often difficult in such cases, as plasma cell type of CD involving only the right kidney is exceedingly rare. However, heightened awareness of this disease entity and its radiographic presentations may alert one to consider this diagnosis.展开更多
BACKGROUND Known ocular manifestations of Alport syndrome include features such as anterior lenticonus and fleck retinopathy. Reports of keratoconus in such patients are limited. We report tomographic findings consist...BACKGROUND Known ocular manifestations of Alport syndrome include features such as anterior lenticonus and fleck retinopathy. Reports of keratoconus in such patients are limited. We report tomographic findings consistent with keratoconus in a patient with Alport syndrome.CASE SUMMARY A 52-year-old female was referred to our ophthalmology clinic with decreased vision and increased tearing. She was diagnosed with stage Ⅲ Alport syndrome two years prior. Upon examination she was found to have average keratometries of 48D bilaterally with tomographic evidence of keratoconus.CONCLUSION Although a rare presentation, concurrent Alport syndrome and keratoconus should be considered when reviewing the ocular health of Alport syndrome patients and appropriate management steps should be taken upon the diagnosis.展开更多
扩大头锚索因具有抗拔承载力大、支护效率高等优点在岩土工程中应用广泛,而注浆段落的长度和自由段保护套管的类型将对锚索受力变形特性产生影响。为此,依托实际工程开展了锚固段注浆+PE波纹管(设计方案)、全长注浆+聚乙烯(polyethylene...扩大头锚索因具有抗拔承载力大、支护效率高等优点在岩土工程中应用广泛,而注浆段落的长度和自由段保护套管的类型将对锚索受力变形特性产生影响。为此,依托实际工程开展了锚固段注浆+PE波纹管(设计方案)、全长注浆+聚乙烯(polyethylene, PE)波纹管(实际施工常用方案)、锚固段注浆+高密度聚乙烯(high density polyethylen, HDPE)套管、全长注浆+HDPE套管等四种不同工况扩大头锚索的现场拉拔试验,对比分析了不同工况下锚索的拉拔荷载-位移(Q-s)曲线、荷载-弹性位移(Q-se)曲线与荷载-塑性位移(Q-sp)曲线、自由段伸长量比例、刚度系数等受力变形特征。试验结果表明,相同注浆长度条件下,采用HDPE套管相比PE波纹管能够更好地发挥对自由段的隔离保护作用,保证自由段的变形性能;而采用相同套管类型时,注浆长度的增加会导致自由段伸长量值的减小,并会增大锚索刚度系数。在试验研究的基础上,提出现场锚索施工采用锚固段注浆+HDPE套管或全长注浆+HDPE套管的建议方案,从而保证锚索受力变形性能均达到设计预期。展开更多
文摘We investigated bending moment resistance under diagonal compression load of comer doweled joints with plywood members. Joint members were made of ll-ply hardwood plywood of 19 mm thickness. Dowels were fabricated of Beech and Hornbeam species. Their diameters （6, 8 and 10 mm） and depths of penetration （9, 13 and 17 ram） in joint members were chosen variables in our experiment. By increasing the connector＇s diameter from 6 to 8 mm, the bending moment resistance under diagonal compressive load was increased, while it decreased when the diameter was increased from 8 to 10 mm. The bending moment re- sistance under diagonal compressive load was increased by increasing the dowel＇s depth of penetration. Joints made with dowels of Beech had higher resistance than dowels of Hornbeam. Highest resisting moment （45.18 N.m） was recorded for joints assembled with 8 mm Beech dowels penetrating 17 mm into joint members Lowest resisting moment （13.35 N.m） was recorded for joints assembled with 6 mm Hornbeam dowels and penetrating 9 mm into joint members.
文摘Progressive familial intrahepatic cholestasis type 3 is caused by a mutation in the ATP-binding cassette, subfamily B, member 4 (ABCB4) gene encoding multidrug resistance protein 3. A 32-year-old woman with a history of acute hepatitis at age 9 years was found to have jaundice during pregnancy in 2008, and was diagnosed as having intrahepatic cholestasis of pregnancy. In 2009, she underwent cholecystectomy for gallstones and chronic cholecystitis. However, itching and jaundice did not resolve postoperatively. She was admitted to our hospital with fatigue, jaundice, and a recently elevated γ-glutamyl transpeptidase level. Liver biopsy led to the diagnosis of biliary cirrhosis with ductopenia. Genetic testing revealed a pathogenic heterozygous mutation, ex13 c.1531G > A (p.A511 T), in the ABCB4 gene. Her father did not carry the mutation, but her mother's brother carried the heterozygous mutation. We made a definitivediagnosis of familial intrahepatic cholestasis type 3. He symptoms and liver function improved after 3 mo o treatment with ursodeoxycholic acid.
基金supported by grants from the National Natural Science Foundation of China(Nos.81572639,81370969 and 81072190 to X Yu)the Ministry of Education of the People's Republic of China(No.20130181110066 to X Yu)the Chengdu Bureau of Science and Technology(No.2014-HM01-00382-SF to X Yu)
文摘Type II autosomal dominant osteopetrosis(ADO2), which is the most common form of osteopetrosis, is caused by heterozygous mutations in the chloride channel 7(CLCN7) gene. The osteopetrosis of ADO2 has been attributed to hypofunctional osteoclasts. The mechanism underlying the abnormality in osteoclast function remains largely unknown. This study was designed to investigate gene mutations and osteoclast function in a case that was clinically diagnosed as ADO2. Genomic DNA was extracted from blood samples of this patient, and the 25 exons of CLCN7 were amplified. Peripheral blood from the ADO2 subject and a healthy age- and sex-matched control was used to evaluate osteoclastogenesis, osteoclast morphology, and bone resorption. Analysis of DNA from the patient showed a germline heterozygous missense mutation,c.1856C>T(p.P619L), in exon 20 of CLCN7. A similar homozygous mutation at this site was previously reported in a patient with autosomal recessive osteopetrosis. When cultured, the peripheral blood mononuclear cells(PBMCs) from the ADO2 patient spontaneously differentiated into mature osteoclasts in vitro. The ADO2 patient’s PBMCs formed enhanced, but heterogeneous, osteoclasts in both the presence and absence of macrophage-colony stimulating factor, and nuclear factor-?B ligand. Bone resorption was reduced in the ADO2 patient’s osteoclasts, which exhibited aberrant morphology and abnormal distribution of integrin avβ3. Gene analysis found increased c-fos expression and reduced Rho A and integrin beta 3expression in ADO2 cells. In conclusion, our data suggest that enhanced, heterogeneous osteoclast induction may be an intrinsic characteristic of ADO2.
文摘BACKGROUND Most occurrences of type 1 diabetes cases in any population are sporadic rather than familial.Hence,type 1 diabetes among siblings is a rare occurrence.Even more rare is for three or more siblings to develop type 1 diabetes.In this report,we describe a case of a Nigerian family in which type 1 diabetes occurred in three siblings among four children with neither parent having diabetes.All three siblings are positive for glutamic acid decarboxylase and anti-islet cell antibodies.CASE SUMMARY There were four siblings(three males and one female)born to a couple without a diagnosis of diabetes.The eldest child(male)was diagnosed with diabetes at the age of 15,the second child(female)was diagnosed at the age of 11 and the fourth child(male)was diagnosed at the age of 9.All the siblings presented with similar osmotic symptoms and were diagnosed of diabetic ketoacidosis.All of them had markedly reduced serum C-peptide levels with high levels of glutamic acid decarboxylase and insulinoma-associated protein-2 antibodies.We could not perform genetic analysis of HLA-DR,DQ and CTLA4 in the siblings as well as the parents;hence haplotypes could not be characterized.Both parents of the probands have no prior history of diabetes,and their blood glucose and glycated hemoglobin levels were within normal ranges.The third child(male)has no history suggestive of diabetes,and his blood glucose and glycated hemoglobin have remained within normal ranges.CONCLUSION Although the occurrence of type 1 diabetes in proband siblings is uncommon,screening for diabetes among siblings especially with islet autoantibodies should be encouraged.
基金Supported by the Department of Education of Zhejiang Province,No.Y201738451Health and Family Planning Commission of Zhejiang Province,No.2016148438
文摘BACKGROUND Pseudohypoparathyroidism type Ia(PHP Ia) is a rare hereditary syndrome, and patients with early PHP Ia are generally not diagnosed based on the presentation of cutaneous nodules as the main clinical feature. Here, we describe a Chinese boy with PHP Ia in whom the main clinical feature was cutaneous nodules, and the patient exhibited a novel GNAS mutation.CASE SUMMARY A 5-year-old boy presented with a 5-year history of cutaneous nodules scattered over his entire body. The patient had a short stature, round face, short neck, and slightly flattened nose;he also had multiple hard papules and cutaneous nodules scattered over his entire body. The patient had a significantly elevated parathyroid hormone level. His serum calcium level was reduced, while his serum phosphorus level was increased and his serum thyroid-stimulating hormone level was elevated. Skin biopsy showed osteoma cutis in subcutaneous tissue. Sanger sequencing revealed a frameshift mutation, c.399 del T(p.Ser133 Argfs*2) in exon 5 of the GNAS gene. The patient was diagnosed with PHP Ia and subclinical hypothyroidism. He was given 1,25-dihydroxyvitamin D,calcium carbonate, and synthetic L-thyroxine. After 3 months of treatment, the patient’s parathyroid hormone level decreased, and his serum calcium and serum phosphorus levels were normal. Moreover, his thyroid-stimulating hormone level decreased.CONCLUSION These findings can help dermatologists to diagnose PHP Ia in patients with cutaneous nodules as the main early clinical feature.
基金Supported by National Natural Science Foundation of China,No.81601692Program of Liaoning Province Department of Education,No.LK2016002
文摘BACKGROUND Gastrointestinal stromal tumors(GISTs) associated with neurofibromatosis are uncommon compared to their gastrointestinal counterparts. Patients with neurofibromatosis type 1(NF-1) have an increased risk of developing gastrointestinal tumors, including rare types such as GIST.CASE SUMMARY A 60-year-old male Chinese patient was diagnosed with NF-1 10 years ago and presented with upper abdominal discomfort and black stools. Endoscopic ultrasonography and an enhanced abdominal computed tomography scan revealed a mass located 4 cm from the muscular layer of the descending duodenum. A 59-year-old Chinese woman who was diagnosed with NF-1 25 years ago presented with sudden unconsciousness and black stools. Multiple masses in the duodenum were noted by echogastroscopy and an enhanced abdominal computed tomography scan. Both patients presented with cutaneous neurofibromas. The histologic examination of tumors from both patients revealed spindle cells and low mitotic activity. Immunohistochemically, the tumor cells showed strong positivity for KIT(CD117), DOG-1, CD34, and Dehydrogenase Complex Subunit B, and negativity for SMA, desmin, S-100, and β-catenin. None of the six tumors from two patients had KIT exon 9, 11, 13, or 17 or platelet-derived growth factor receptor α exon 12 or 18 mutation, which is a typical finding for sporadic GISTs. None of the six tumors from the two patients had a BRAFV600 E mutation. The patients were alive and well during the follow-up period(range:0.6-5 yr).CONCLUSION There have been only a few previous reports of GISTs associated with NF-1.Although GISTs associated with NF-1 have morphologic and immunohistochemical similarities with GISTs, the pathogenesis, incidence,genetic background, and prognosis are not completely known. A medical history of NF-1 in a patient who has gastrointestinal bleeding or anemia and an intraabdominal mass with nonspecific computed tomography features may help in diagnosing GIST by virtue of the well-known association of these two entities.Molecular genetic studies of cases indicated that GISTs in NF-1 patients have a different pathogenesis than sporadic GISTs.
文摘Background: Neuromuscular choristoma is a rare benign peripheral neuropathy composed of ectopic mature muscle fibers and nerve bundles, usually involving large nerve roots or trunks, such as brachial plexus and sciatic nerve. NMC usually occurs in childhood, and some cases are congenital. Here, we report a case of adult orbital intraconal NMC. The resected specimens were fish-like and tough. Histological pathology suggested that the specimen was composed of mature skeletal muscle tissue interspersed with peripheral nerve bundles. Histopathological examination revealed that the left orbital mass was composed of mature skeletal muscle tissue interspersed with surrounding nerve fascicles. Immunohistochemistry: S-100 protein was positive. In general, postoperative histopathological examination ultimately determined the diagnosis of NMC in the intraconal region of the orbital muscle. Case Presentation: A 51-year-old female patient was admitted to the hospital due to periocular pain for 2 weeks. Orbital CT scan showed an irregular soft tissue density in the left orbital muscle cone area, and the boundary between the local and the left lateral rectus muscle was unclear. Magnetic resonance imaging showed that there was an oval abnormal signal in the posterior lateral space of the left eyeball, with a clear edge and a size of about 22 mm × 8 mm. The boundary between the local area and the left lateral rectus muscle was unclear, and the optic nerve was compressed to the right side. The T1 WI showed low signal, T2-FS showed high and low mixed signal, and the enhanced scan showed continuous obvious enhancement. Eventually, the patient underwent surgical resection of the lesion. Conclusions: NMC is a rare benign peripheral neuropathy, especially NMC in the orbital muscle cone. There is no specificity in clinical and imaging examinations. Accurate diagnosis before surgical resection is very challenging for clinicians and radiologists. Importantly, we can differentiate orbital NMC from other types of orbital tumors.
文摘BACKGROUND Neurofibromatosis type Ⅰ(NF1) is the most frequent subtype of neurofibromatosis. Its related tumor-suppressor syndromes are characterized by a predisposition to multiple tumor types and other disorder presentations. In addition, the incidence of tumors is much higher in patients with neurofibromatosis type Ⅰ. However, there are very few reports at home and abroad on this topic. Here, we present a case of NF1 with spindle cell sarcoma.CASE SUMMARY A 50-year-old male was found to have a right axillary mass for 20 years.Specialist examination found cafe-au-lait spots on many parts of the skin,rounded nodules in the skin, a bulge in the right armpit, touching a lump(10 cm× 6 cm, hard, unclear boundary, poor mobility, local tenderness). The anterior side of the thigh felt weakened on the opposite side;in the right groin a swollen lymph node(hard, clear border, good mobility, local tenderness). According to the results of positron emission tomography/computed tomography, puncture pathology and immunohistochemistry, genetic testing, a diagnosis of NF1 with spindle cell sarcoma was confirmed. According to the genetic testing result, the patient was given a targeted treatment with crizotinib.CONCLUSION Surgery, chemotherapy and radiotherapy are the main treatment methods of NF1. However, with the continuous progress of molecular biology research,molecular targeted therapy may bring benefits for patients.
基金supported by United States Public Health Service (USPHS) grant R01CA92585 from the National Cancer Institute
文摘ABO blood type has been associated with risk of several malignancies. However, results are not consistent. In this population-based case-control study including 1204 incident endometrial cancer cases and 1212 population controls, we examined the association of self-reported serologic blood type with endometrial cancer risk using a logistic regression model. Women with endometrial cancer were more likely to have blood type A. Compared to women with blood type O, the adjusted odds ratios for endometrial cancer were 1.00 [95% confidence interval (CI), 0.79-1.28] for type B, 1.24 (95% CI, 0.90-1.69) for type AB, and 1.50 (95% CI, 1.19-1.90) for type A. A significant dose-response relationship was observed for cancer risk and level of antigen A (P for trend = 0.0003). The positive association of blood type A with cancer risk was observed regardless of menopausal status, body mass index, oral contraceptive use, or family cancer history. Our results suggest that ABO blood type may be involved in the development of endometrial cancer.
文摘We have previously reported the high levels of glutamic acid decarboxylase 65 autoantibodies(GAD65A)in patients with type 1 diabetes and autoimmune thyroid disease.Here we describe a 32-year-old Japanese female with a thirteen-year history of type 1 diabetes whose levels of GAD65A were elevated just after the emergence of anti-thyroid autoimmunity.At 19 years of age,she developed diabetic ketoacidosis and was diagnosed with type 1 diabetes.She had GAD65A,insulinoma-associated antigen-2 autoantibodies(IA-2A),and zinc transporter-8 autoantibodies(ZnT8A),but was negative for antibodies to thyroid peroxidase(TPOAb)and thyroglobulin(TGAb)at disease onset.ZnT8A and IA-2A turned negative 2-3 years after the onset,whereas GAD65A were persistently positive at lower level(approximately 40 U/mL).However,just after the emergence of TGAb at disease duration of 12.5 years,GAD65A levels were reelevated up to5717 U/mL in the absence of ZnT8A and IA-2A.Her thyroid function was normal and TPOAb were consistently negative.She has a HLA-DRB1*03:01/*04:01-DQB1*02:01/*03:02 genotype.Persistent positivity for GAD65A might be associated with increased risk to develop anti-thyroid autoimmunity.
文摘1 Introduction Nigella sativa, known as black seed, has analgesic, anti-inflammatory, antioxidant and anticancer effects. It has been shown to reduce the development of kidney failure when given prior to the use of nephrotoxic drugs particularly due to its antioxidant action. However, as far as the authors could ascertain, there is no human study in literature showing these effects. Here we present a case of acute renal failure after the use of N. sativa, rather than exhibiting antioxidant or antidiabetic effects.
文摘BACKGROUND We present a rare case of plasma cell type of Castleman's disease(CD) involving only the right renal sinus in a 65-year-old woman with a duplex collecting system(DCS).CASE SUMMARY The patient presented with a right renal sinus lesion after renal ultrasonography.Subsequent abdominal enhanced computed tomography(CT) and magnetic resonance imaging(MRI) of the kidneys showed DCS and a soft tissue mass with mild enhancement at the lower right renal sinus. The lesion was suspected to be a malignant renal pelvic carcinoma. Hence, the patient underwent a right radical nephrectomy. Histological examination revealed hyperplastic lymphoid follicles in the renal sinus. A detailed review of the patient's CT and MRI images and a literature review suggested that the lesion was hypointense on T2-weighted images and hyperintense on diffusion-weighted image manifestations, and showed mild enhancement, which distinguished the plasma cell type of CD from many other renal sinus lesions. Furthermore, peripelvic soft tissue masses with a smooth internal surface of the renal pelvis were on imaging findings, which suggests that the urinary tract epithelial system is invulnerable and can be used to differentiate the plasma cell type of CD from malignant lymphoma with a focally growth pattern to some extent.CONCLUSION Preoperative diagnosis is often difficult in such cases, as plasma cell type of CD involving only the right kidney is exceedingly rare. However, heightened awareness of this disease entity and its radiographic presentations may alert one to consider this diagnosis.
文摘BACKGROUND Known ocular manifestations of Alport syndrome include features such as anterior lenticonus and fleck retinopathy. Reports of keratoconus in such patients are limited. We report tomographic findings consistent with keratoconus in a patient with Alport syndrome.CASE SUMMARY A 52-year-old female was referred to our ophthalmology clinic with decreased vision and increased tearing. She was diagnosed with stage Ⅲ Alport syndrome two years prior. Upon examination she was found to have average keratometries of 48D bilaterally with tomographic evidence of keratoconus.CONCLUSION Although a rare presentation, concurrent Alport syndrome and keratoconus should be considered when reviewing the ocular health of Alport syndrome patients and appropriate management steps should be taken upon the diagnosis.
文摘扩大头锚索因具有抗拔承载力大、支护效率高等优点在岩土工程中应用广泛,而注浆段落的长度和自由段保护套管的类型将对锚索受力变形特性产生影响。为此,依托实际工程开展了锚固段注浆+PE波纹管(设计方案)、全长注浆+聚乙烯(polyethylene, PE)波纹管(实际施工常用方案)、锚固段注浆+高密度聚乙烯(high density polyethylen, HDPE)套管、全长注浆+HDPE套管等四种不同工况扩大头锚索的现场拉拔试验,对比分析了不同工况下锚索的拉拔荷载-位移(Q-s)曲线、荷载-弹性位移(Q-se)曲线与荷载-塑性位移(Q-sp)曲线、自由段伸长量比例、刚度系数等受力变形特征。试验结果表明,相同注浆长度条件下,采用HDPE套管相比PE波纹管能够更好地发挥对自由段的隔离保护作用,保证自由段的变形性能;而采用相同套管类型时,注浆长度的增加会导致自由段伸长量值的减小,并会增大锚索刚度系数。在试验研究的基础上,提出现场锚索施工采用锚固段注浆+HDPE套管或全长注浆+HDPE套管的建议方案,从而保证锚索受力变形性能均达到设计预期。
