[Clinical characteristics and related factors of acute tubular necrosis in patients with minimal change disease].

Objective: To investigate the clinical characteristics and related factors of acute tubular necrosis (ATN) in patients with minimal change disease (MCD). Methods: Patients from Chinese PLA General Hospital who were pathologically diagnosed with MCD and had clinical manifestations of nephrotic syndrome from January 1, 2013 to December 31, 2019 were included. The clinical and pathological data of patients were retrospectively analyzed. Meanwhile, the incidence and clinical characteristics of ATN in different age groups were compared. The risk factors for ATN were assessed using binary logistic regression. Results: A total of 525 patients were included, with a gender ratio of 1.56∶1 (male: female), aged 33 (21, 48) years old. ATN occurred in 49 (9.3%) of 525 patients, of which 34 were male and 15 were female. The incidence of ATN increased with age in MCD patients of different age groups (χ(2)=31.442, P<0.001). The incidence of ATN in groups of age≤20 years, 21-40 years, 41-60 years, and >60 years was 2.4% (3/123), 5.2% (10/192), 13.2% (20/152) and 27.6% (16/58), respectively. Elevations of alanine aminotransferase (ALT), aspartate aminotransferase (AST), γ-glutamyl transpeptidase (GGT) and serum IgE occurred in 92 patients (17.5%), 53 patients (10.1%), 99 patients (18.9%), and 303 patients (57.7%), respectively. There were significant differences in age, ALT, serum creatinine, serum urea nitrogen, history of diabetes and history of hypertension between non-ATN group and ATN group (all P<0.05). The results of logistic regression analysis showed that>40 years old (OR=6.283, 95% CI: 2.695-14.649, P<0.001) and serum albumin (OR=0.924, 95% CI: 0.857-0.997, P=0.040) was independently associated with ATN in MCD patients. Conclusion: Age>40 years is an independent risk factor and serum albumin is a protective factor for ATN in MCD patients.

Nontyphoidal salmonella urinary tract infection in a case of hyperparathyroidism and nephrocalcinosis.

Nontyphoidal Salmonella infections often present with self-limited gastroenteritis. Extraintestinal focal infections are uncommon but have high mortality and morbidity. Urinary tract infection caused by nontyphoidal Salmonella is usually associated with structural abnormalities of the urinary tract. Nephrocalcinosis and nephrolithiasis are the major risk factors. Although primary hyperparathyroidism has been reported to increase the risk of nephrocalcinosis and nephrolithiasis, little is known about the association between hyperparathyroidism and Salmonella urinary tract infection. We report the case of a 37-year old man who had a history of primary hyperparathyroidism and bilateral nephrocalcinosis and who developed urinary tract infection. Salmonella Group D was isolated from his urine specimen. Salmonella should be considered as a possible causality organism in patients with primary hyperparathyroidism and nephrocalcinosis who develop urinary tract infection. These patients need to be aware of the potential risks associated with salmonellosis.

Discriminant analysis for anaesthetic decision-making: an intelligent recognition system for epidural needle insertion.

BACKGROUND: Incorrect placement of epidural catheters causes medical complications. We used linear discriminant analysis (LDA) to develop an intelligent recognition system (i-RS) in order to guide epidural placement and reduce physician error. METHODS: We analysed real-time dual-wavelength fibreoptic data recorded from the end of an epidural needle in a live porcine model. Two categories of tissue layers were necessary for correct placement of catheter: epidural space and ligamentum flavum. The data were tested using linear, quadratic and logistic parametric analysis to identify which method could distinguish the two anatomical structures. RESULTS: LDA was the best fit for our model. There was ∼80% sensitivity and specificity for correct anatomical identification. Error rates based on cross-validation were 17.0% for the epidural space and 18.6% for ligamentum flavum. Error rates were greater with the 532 nm compared with 650 nm wavelength. CONCLUSIONS: The sensitivity and specificity of LDA for identifying the correct anatomical structure was similar to a physician who is an expert in epidural placement. Overall performance of an i-RS could be improved by expanding the database for decision-making and adding a category of uncertainty. This would reduce complications caused by incorrect epidural placement.

Partial trisomy 1q (1q42.13-->qter) and partial monosomy 6q (6q27-->qter) in a girl with single median maxillary central incisor, corpus callosum dysgenesis and developmental delay.

A 3-year-old girl presented with mental retardation, developmental delay, seizures, hypotonia, brachycephaly, a triangular face, single median maxillary central incisor (SMMCI), prominent forehead, down-slanting palpebral fissures, hypertelorism, a high-arched palate, micrognathia and low-set ears. Computed tomographic scans revealed corpus callosum dysgenesis and hypoplasia of bilateral frontal sinuses. Oligonucleotide-based array comparative genomic hybridization analysis revealed a -20.7-Mb duplication of 1q42.13-->qter and a -3.6-Mb deletion of 6q27-->qter. The karyotype of the girl was 46,XX,der(6)t(1;6)(q42.13;q27)pat. Mutational analysis of the patient revealed no mutation in the genes of SHH, SIX3 and TGIF. The present case adds unbalanced chromosome aberration of partial trisomy 1q and partial monosomy 6q to the list of genetic conditions associated with SMMCI.

De novo satellited 2q associated with corpus callosum dysgenesis, short stature, mental retardation and developmental delay.

We report the cytogenetic and molecular characterization of a 9.46-Mb terminal deletion of 2q in a 3-year-old girl with a de novo satellited 2q (2qs), corpus callosum dysgenesis, short stature, mental retardation and developmental delay. We speculate that haploinsufficiency of HDAC4 is responsible for short stature, mental retardation and developmental delay, and haploinsufficiency of EFHD1 is most likely responsible for the phenotype of corpus callosum dysgenesis in this patient.

Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III.

Osteogenesis imperfecta (OI) types I-V have been inherited in an autosomal dominant pattern. OI type I is associated with mutations in COL1A1 mostly due to a null allele. OI types II-IV are associated with mutations in COL1A1 or COL1A2 and mostly are due to glycine substitutions. It has been suggested that the effect of glycine substitutions is position specific, and the substitution of glycine by serine has much less lethal effect than the substitutions by valine, aspartic acid, glutamic acid, arginine and cysteine. We report identification of c.3064G>A, GGT>AGT, Gly1022Ser (Gly(844) --> Ser844 in triple helix) in exon 43 of the COL1A1 gene in an 8-year-old girl with OI type III. Our report provides evidence that at triple helix glycine residue 844 (p.Gly1022), a glycine substitution by serine can result in OI type III but not a lethal outcome.

Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly.

We report a 2 1/2-year-old male infant with a karyotype of 46,XY,del(9)(p22) and the phenotypic features of craniofacial dysmorphisms, hypotonia, psychomotor developmental delay, mental retardation, ventricular septal defect, atrial septal defect, cryptorchidism and postaxial polydactyly of the fingers. A rudimentary poorly developed extra digit in the ulnar side of the fifth finger was observed in each hand. The present case adds to the literature of postaxial hexadactyly of the fingers in chromosome 9p deletion syndrome. We suggest that 9pter-p22 may contain genetic loci associated with human postaxial polydactyly.

Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformations.

We report a female infant with a karyotype of 46,XX,der(9)t(9;18)(p22.2;q21.32)pat and the phenotypic features of craniofacial dysmorphisms, developmental delay, hypotonia, horizontal nystagmus, strabismus, congenital heart defects, clubfoot, and anorectal malformations with an anterior ectopic anus and a stenosed anal opening. Array comparative genomic hybridization revealed a 16.93-Mb deletion at 9p24.3-p22.2 encompassing the FREM1 gene and a 20.43-Mb duplication at 18q21.32-q23 encompassing the PIGN gene. We speculate that dual genome imbalances in FREMI at 9p22.3 and in PIGN at 18q21.3 are most likely responsible for the abnormal development of anorectum in this patient.

Pure distal 9p deletion in a female infant with cerebral palsy.

We report cytogenetic and molecular characterization of a 15.63-Mb pure distal deletion of chromosome 9p (9p22.3-->pter) in a l 1/2-year-old female infant with cerebral palsy and diffuse cerebral dysfunction. The deletion is of paternal origin and encompasses the genes of ANKRDS15, DOCK8, FOXD4 and VLDLR. We discuss the genotype-phenotype correlation in this case with neurological dysfunction and a distal 9p deletion of paternal origin.

Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation.

We report a neonate with pure deletion of distal 11q (11q23.3-->qter) and Jacobsen syndrome. The patient had growth restriction, petechiae, thrombocytopenia, dilation of renal pelvis, congenital heart defects, and seizures. Array comparative genomic hybridization revealed a 15.8-Mb deletion from 11q23.3 to 11q25 without genomic imbalances in other chromosomes. Cytogenetic analysis revealed a karyotype of 46,XX,der(7)(7pter-->7q32),der(11)(11pter--> 11q23.3::7q32-->7qter). The parental karyotypes were normal. This is the first report of pure distal 11q deletion without additional genomic imbalances in a patient with Jacobsen syndrome and a de novo unbalanced reciprocal translocation.

Clinical imaging findings in a girl with Hutchinson-Gilford progeria syndrome.

We report an 82-year-old girl with premature aging, a karyotype of 46,XX and a de novo c.1824C>T mutation encoding p.G608G in the lamin A gene. The clinical features of accelerated aging and the molecular finding were consistent with the diagnosis of Hutchinson-Gilford progeria syndrome (HGPS). In this presentation, we demonstrate the radiological imaging findings of skeletal, oral and craniofacial phenotypes of abnormalities associated with HGPS. The oral and craniofacial abnormalities caused dental caries, severe malocclusion, and swallowing, feeding and speech problems. Dural calcification, and granulation in the ear drum and external ear canal were additionally observed.

Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay.

A 1-year-and-3-month-old girl presented with psychomotor retardation, developmental delay, clinodactyly of the thumb, coarctation of the aorta, patent ductus arteriosus, peripheral pulmonary stenosis, atrial septal defect, microcephaly, brachycephaly, a small oval face, almond-shaped eyes, a down-turned mouth, a widened nasal bridge, hypertelorism, epicanthic folds, long philtrum, low-set large ears and but no craniosynostosis. Oligonucleotide-based array comparative genomic hybridization revealed a -4.79-Mb deletion of 3p26.2 --> pter encompassing CHL1 and CNTN4, and a -19.56-Mb duplication of 5q34 --> qter encompassing MSX2, NKX2-5 and NSD1. The karyotype of the girl was 46,XX,der(3)t(3;5)(p26.2;q34) pat. The present case adds distal 5q duplication to the list of chromosome aberrations associated with coarctation of the aorta.

Strategic management of behavioural change in type 2 diabetic patients.

OBJECTIVES: To investigate the key factors in and gap between perception and performance of daily blood glucose monitoring, regular exercise and diet control in individuals with type 2 diabetes, and to help develop patient-centric healthcare management strategies. STUDY DESIGN: Cross-sectional study. METHODS: A focus group interview was conducted and questionnaires were collected from outpatients with type 2 diabetes. Paired sample t-tests, importance-performance gap analysis and regression analysis were performed. RESULTS: Perseverance was the key factor affecting blood glucose monitoring and regular exercise; the association was stronger in men than women. The critical factor in diet control was the desire to eat. Patients' perceived severity of diabetes and limited daily activities due to diabetes correlated with regular exercise, patients' compliance correlated with glucose monitoring, and perceived health status correlated with diet control. CONCLUSIONS: The cultivation of perseverance and strengthening psychological coping is critical. Health professionals should design tailored services, avoid didactic intervention education programmes, and develop a 'meaning-centred' rather than a 'message-centred' philosophy of exercise. Such a campaign may help to improve self-management and promote health behaviours for people with type 2 diabetes.

Pure interstitial duplication of chromosome 7q (7q31.2-->q33) in a 4-year-old girl with growth restriction, short stature, speech delay and intellectual disability.

We report the cytogenetic and molecular characterization of a 22.3-Mb pure interstitial duplication of chromosome 7q, dup(7)(q31.2-->q33) in a 4-year-old girl with growth restriction, short stature, speech delay, inguinal hernia, strabismus and intellectual disability. We speculate that the gene dosage increase effect of the ING3 and LEP genes may be partially responsible for the phenotype of growth restriction and short stature in this patient.

A 24.2-Mb deletion of 4q12 --> q21.21 characterized by array CGH in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty.

We report molecular and cytogenetic characterization of proximal deletion of chromosome 4q, del(4)(q12 --> q21.21) in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty. We speculate that haploinsufficiency of the AMTN, ENAM and AMBN genes is most likely responsible for dental disorders, haploinsufficiency of the BMP2K genes is most likely responsible for ocular disorders, and haploinsufficiency of the EREG, AREG and BTC genes is most likely responsible for delayed puberty in this patient.

Mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy facial asymmetry psychomotor retardation kyphoscoliosis dermatofibrosarcoma and multiple exostoses.

We report molecular cytogenetic characterization of mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy, facial asymmetry, psychomotor retardation, kyphoscoliosis, dermatofibrosarcoma and multiple exostoses. The supernumerary r(1) is associated with gene dosage increase of CHRNB2, ADAR and KCNJ10 in the pericentromeric area of 1q, and a breakpoint within CTTNBP2NL at 1p13.2. We speculate that the gene dosage increase of CHRNB2, ADAR and KCNJ10 is most likely responsible for epilepsy, and the breakpoint at 1p13.2 in the supernumerary r(1) is most likely responsible for the development of multiple exostoses and osteochondroma in this patient.

Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).

Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a progressive, multisystemic disease caused by a deficiency of iduronate-2-sulfatase. Patients with the severe form of the disease have cognitive impairment and typically die in the second decade of life. Patients with the less severe form do not experience significant cognitive involvement and may survive until the fifth or sixth decade of life. We studied the relationship of both severity of MPS II and the time period in which patients died with age at death in 129 patients for whom data were entered retrospectively into HOS (Hunter Outcome Survey), the only large-scale, multinational observational study of patients with MPS II. Median age at death was significantly lower in patients with cognitive involvement compared with those without cognitive involvement (11.7 versus 14.1 years; p = 0.024). These data indicate that cognitive involvement is indicative of more severe disease and lower life expectancy in patients with MPS II. Median age at death was significantly lower in patients who died in or before 1985 compared with those who died after 1985 (11.3 versus 14.1 years; p alpha 0.001). The difference in age at death between patients dying in or before, relative to after, the selected cut-off date of 1985 may reflect improvements in patient identification, care and management over the past two decades. Data from patients who died after 1985 could serve as a control in analyses of the effects of enzyme replacement therapy with idursulfase on mortality in patients with MPS II.

Burden of syphilis infections in Shenzhen, China: a preliminary estimation.

Information on the prevalence and incidence of sexually transmitted infections is important for developing prevention and control strategies and allocating human and financial resources. However, there are no available estimates of such information for many areas in China. In this study, we used the existing data to make a preliminary estimation of syphilis infections in Shenzhen city, in south-eastern China. Data on prevalence rates of syphilis infections among different populations were obtained from the local HIV/sexually transmitted disease second-generation surveillance programme, and the sizes of different populations were estimated based on the most recently available figures. It was estimated that 83,760 (range 77,490-90,020) people are currently infected with syphilis, giving a prevalence of 0.71-0.82% (0.76% on average) in Shenzhen. Around 18% of these syphilis infections occur among men who have sex with men and another 15.8% and 8.7% occur among female sex workers and their clients, respectively. These estimates suggest that a combination of unprotected paid sex and sex between men may be sustaining the epidemic of syphilis in the study area. The preliminary estimates will assist the government in planning and improving its comprehensive intervention programmes for the future control and prevention of syphilis.

Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation.

Pfeiffer syndrome (OMIM 101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, ocular proptosis and digital malformations. We report on a type II Pfeiffer female infant with craniosynostosis, hydrocephalus, and characteristic craniofacial and digital abnormalities. The patient had a history of airway difficulty. Bronchoscopy at age four months revealed low tracheal stenosis and fibrous cartilaginous rings. She underwent tracheostomy for the treatment of cyanotic episodes. Molecular analysis revealed a de novo missense mutation c.870 G>T (TGG>TGT) in the FGFR2 gene that predicts a substitution of cysteine for tryptophan at the codon 290, (W290C). There is phenotypic heterogeneity of tracheal anomalies due to FGFR2 mutations. A review of the literature shows that Pfeiffer patients with the similar tracheal abnormalities can be caused by different FGFR2 mutations and, likewise, the patients with the same FGFR2 mutation may manifest different kinds of tracheal anomalies. Tracheal anomalies may occur in Pfeiffer patients and cause morbidity and mortality because of airway obstruction. Recognition and detailed evaluation of tracheal anomalies should be included in the early diagnostic workup for severe Pfeiffer patients.