Adiponectin gene polymorphisms and adiponectin levels are independently associated with the development of hyperglycemia during a 3-year period: the epidemiologic data on the insulin resistance syndrome prospective study

The plasma concentration of the adipocyte-derived peptide adiponectin is decreased in patients with obesity and type 2 diabetes. The adiponectin gene is located on chromosome 3q27, where a diabetes susceptibility locus has been mapped. Adiponectin gene polymorphisms (single nucleotide polymorphisms [SNPs]) have been associated with BMI, insulin sensitivity, and type 2 diabetes in some cross-sectional studies. Our aim was to assess the contribution of these SNPs in the development of features of the insulin resistance syndrome in a 3-year prospective study in approximately 4,500 French Caucasian subjects from the Epidemiologic Data on the Insulin Resistance Syndrome (DESIR) cohort. For subjects who were normoglycemic at baseline, the 3-year risk of becoming hyperglycemic (diabetes or impaired fasting glucose) was affected by two SNPs: G-11391A and T45G. For G-11391A, the risk was increased in GA carriers (odds ratio [OR] adjusted for sex [versus GG] = 1.60 [95% CI 1.16-2.20]; P = 0.004). For T45G, it was increased in GG carriers (OR [versus TT] = 2.71 [1.31-5.60]; P = 0.007). After 3 years, GG subjects had a greater increase in BMI (P = 0.009) and waist-to-hip ratio (P = 0.007). Adiponectin levels at baseline were associated with the development of hyperglycemia (P = 0.005), but the predictive effects on the risk for hyperglycemia were independent of adiponectin genotypes. In conclusion, in the DESIR study, variations at the adiponectin locus affect body weight gain, body fat distribution, and onset of hyperglycemia, as well as adiponectin levels. Adiponectin gene SNPs may have several phenotypic effects that co-occur with the development of the metabolic syndrome.     

A missense mutation in KIT kinase domain 1 correlates with imatinib resistance in gastrointestinal stromal tumors

KIT gain of function mutations play an important role in the pathogenesis of gastrointestinal stromal tumors (GISTs). Imatinib is a selective tyrosine kinase inhibitor of ABL, platelet-derived growth factor receptor (PDGFR), and KIT and represents a new paradigm of targeted therapy against GISTs. Here we report for the first time that, after imatinib treatment, an additional specific and novel KIT mutation occurs in GISTs as they develop resistance to the drug. We studied 12 GIST patients with initial near-complete response to imatinib. Seven harbored mutations in KIT exon 11, and 5 harbored mutations in exon 9. Within 31 months, six imatinib-resistant rapidly progressive peritoneal implants (metastatic foci) developed in five patients. Quiescent residual GISTs persisted in seven patients. All six rapidly progressive imatinib-resistant implants from five patients show an identical novel KIT missense mutation, 1982T-->C, that resulted in Val654Ala in KIT tyrosine kinase domain 1. This novel mutation has never been reported before, is not present in pre-imatinib or post-imatinib residual quiescent GISTs, and is strongly correlated with imatinib resistance. Allelic-specific sequencing data show that this new mutation occurs in the allele that harbors original activation mutation of KIT.     

The acceptability of telemedicine for podiatric intervention in a residential home for the elderly

We investigated the use of telemedicine in the diagnosis and treatment of foot disorders. In an eight-month study, 49 residents of a local 200-bed home for the elderly, who had a potential or active foot problem, were examined via videoconferencing. They were subsequently examined on site. Their mean age was 86 years (range 67-100 years). There were 49 consultations for new cases and 50 follow-up consultations; therefore 99 teleconsultations and 99 on-site consultations were carried out. After 15% of the teleconsultations, an on-site visit was still required for full assessment of the case, as a diagnosis could not be determined. In 6% of teleconsultations there was difficulty in determining an accurate management plan. Telepodiatry was found to be satisfactory in the remaining 79% of cases and 87% of clients preferred teleconsultation to being transported to the hospital clinic. Telemedicine was found to be an acceptable method of providing some aspects of podiatry care to clients living in a residential home for the elderly. It was an excellent triage mechanism, and facilitated earlier identification of and intervention for urgent problems.     

Short rib-polydactyly syndrome type III: comparison of ultrasound, radiology, and pathology findings

Short rib-polydactyly syndrome (SRPS; types I-IV) is an autosomal recessive, lethal skeletal dysplasia characterized by short-limb dysplasia, narrow thorax, and polydactyly. This syndrome is invariable and can be detected by 2-trimester ultrasound. The underlying gene has not been discovered yet. We report a case of SRPS subtype III Verma-Naumoff-Le Marec that was sonographically detected at 20 weeks' gestation and compare prenatal ultrasound with postmortem findings from pathology and radiology. Since the risk of recurrence is 25%, early ultrasound for consecutive pregnancies was advised and performed at 11+6 weeks' gestation in the following pregnancy without any findings. Ultrasound diagnosis in this rare case of SRPS is a valuable tool for identification and early management, since there are no specific biochemical or histopathological markers for this syndrome. Radiological and pathological findings confirmed SRPS type III and assisted in the differential diagnosis of the subtype.     

An outbreak of viral gastroenteritis in a mother-and-child health clinic

An outbreak of diarrhoeal disease in a modern mother-and-child health clinic prompted the health authorities to initiate a retrospective cohort study in order to assess the scope of the outbreak and to identify possible risk factors. The management of the clinic had been rather concerned because four similar outbreaks had occurred during the last two years. A total of 151 guests, i.e. mothers with their children, who had arrived some days before the peak of the outbreak for a three-week-stay and another 15 guests who had arrived earlier and had extended their stay were enrolled in the study which mainly focused on the possible role of treatment measures as risk factors. In addition, a total of 49 staff members were requested to provide information about symptoms, working area and attendance at work. Relevant data were available from 164 of 166 guests and 47 of 49 staff members (response rates 98.8% and 96.0%, respectively). The attack rate among guests was 44.0% (adults 27.0%, children 54.0%) and among staff 23.4%. The mean age of affected children (3.5 years) was significantly lower than that of those not affected (6.3 years). The main symptoms were diarrhoea and vomiting. The sudden start of the outbreak suggested a single source of infection which, however, remained unknown. Person-to-person transmission was supposed to be the cause of the following spread. No association between distinct treatment measures and the disease was proven by the cohort study. Norwalk-like viruses as well as astroviruses were detected by polymerase chain reaction in specimens taken from seven patients. No other enteropathogenic agents were found. Regarding the special conditions in a mother-and-child health clinic where social contacts among guests are much more frequent and intensive than among patients in a "normal" hospital, measures to prevent the spread of gastrointestinal infections should concentrate on early recognition and isolation of symptomatic individuals. Guests and staff members should be instructed to keep to the rules of personal hygiene, especially handwashing. If disinfection is required, it should be virucidal.     

Maternal perception of the neonate as related to development

One hundred and twenty, full-term, normal, first-born infants were categorized at one month of age into a high-risk or low-risk group for possible development of emotional and developmental deviations. The predictions were based on measurements of the mother's perception of her infant as compared to the average. At age 4 1/2, the children were evaluated by two child psychiatrists who had no knowledge of the children's predictive risk rating. A statistically significant association was evident between prediction and outcome. This paper describes the methodology and discusses the implications of the findings.This paper was originally presented at American Psychiatric Association Meeting in Bal Harbour, Florida, May 8, 1969.The authors wish to express their appreciation to Mrs. Fredricka Latshaw, Dr. Sara Arnaud, Mr. Ted Grice, and Mrs. Karen Lento.     

Effects of prefeeding oral stimulation on feeding performance of preterm infants

Objective  

To investigate the effects of a prefeeding oral stimulation program on the feeding performance of preterm infants.     

Nasal glioma as a rare cause of obstructed nasal breathing in a newborn infant]

Congenital midline nasal masses are rare entities occurring once in 20-40,000 births. They are often misdiagnosed or even missed. These tumors are most commonly present in newborn infants and children, but rarely they can be discovered in adults as well. The differential diagnostic possibilities are dermoids, gliomas, encephaloceles and epidermoid cysts. Although they are benign, they have the potential for disfigurement, destruction and causing a meningitis, therefore they require prompt diagnosis and management. Because of a possible connection to intracranial structures a complete radiologic evaluation is essential. The treatment for these nasal masses is surgical resection, endoscopically controlled procedures are preferred. We report the case of a newborn with respiratory distress shortly after birth. The infant was discharged from the hospital, because the unexplained symptoms were not progressive. After a few days the child was send to an otolaryngologist, who found a suspicious mass near the top of the nose and performed a biopsy. At 20 days of age the infant was brought to our children's hospital for additional diagnostic procedures and therapy. The MRI showed a soft tissue mass (1.2 x 0.7 x 1.1 cm) in the nasal cavity. There was no clear-cut evidence of an intracranial extension, for further evaluation a radionuclide scan was performed. This confirmed the integrity of the base of the skull. 6 weeks after the birth a smooth tumor was successfully removed by an endoscopically controlled operation. Histopathologic studies confirmed neuroglial tissue. Because of ist rare incidence, many physicians are not familiar with the diagnosis and management of these tumors. Respiratory abnormalities in newborn should always lead to a careful physical examination and complete radiologic evaluation, i.e. MRI, CT and radionuclide scan.