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71.
Aycan Z Cetinkaya S Oğuz SS Ceylaner S 《Journal of pediatric endocrinology & metabolism : JPEM》2011,24(5-6):373-375
Permanent neonatal diabetes mellitus is a rare disorder usually presenting within the first few weeks or months of life. This disorder is genetically heterogeneous and has been associated with mutations in various genes. The genetic cause remains mostly unknown although several genes have been linked to this disorder. Mutations in KCNJ11, ABCC8, or INS are the cause of permanent neonatal diabetes mellitus in about 50%-60% of the patients. With genetic studies, we hope to increase our knowledge of neonatal diabetes, whereby new treatment models can become possible. Here, we defined a new variant of a known mutation, INS Exon 1-3 homozygous deletion, in two siblings diagnosed with permanent neonatal diabetes mellitus. 相似文献
72.
Baş VN Ozkan M Zenciroğlu A Cavuşoğlu YH Cetinkaya S Aycan Z 《Journal of pediatric endocrinology & metabolism : JPEM》2012,25(5-6):553-555
The most common reason for refractory hypoglycemia in newborns is congenital hyperinsulinism. We report a girl with congenital hyperinsulinism due to novel homozygous mutation (c.2041-25 G>A; aberrant splicing mutation) in the ABCC8 gene encoding SUR1 and during somatostatin analog (octreotide) discontinuation developed by nonhypoglycemic seizures. The newborn (birth weight of 3,750 g) was referred to our clinic because of hypoglycemic seizures at 4 h postnatal. On admission, blood glucose was 24 mg/dL and intravenous glucose infusion was started. The patient's insulin level was 27 mIU/mL during the hypoglycemic period. Phenobarbital (5 mg/ kg/day) was added because of short-acting generalized clonic seizures. Although the patient received high doses of diazoxide, esidrex, and octreotide approximately for 2 months, hypoglycemic episodes continued. Then the patient had near-total pancreatectomy, and pathology confirmed a diffuse form of congenital hyperinsulinism. There was homozygous mutation in the ABCC8 gene encoding SUR1, which confirmed the diagnosis of autosomal recessive congenital hyperinsulinism. During octreotide discontinuation, the patient developed non-hypoglycemic seizures, which were controlled by restarting the previous doses. In the light of in vitro and in vivo studies on antiepileptic effects of somatostatin, we believe that seizures in our case have developed secondary octreotide discontinuity. 相似文献
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On clinical grounds, arachnoid cysts are usually associated with neurological dysfunction. Little is known concerning their
involvement in endocrine disorders. A seven-year-old boy was admitted to the hospital for evaluation of an unprovoked afebrile
seizure. His neurological examination was normal, however, he had growth retardation. Insulin tolerance and L-dopa growth
hormone stimulation tests revealed an inefficient growth hormone response. An MRI of hypophysis and cranium yielded a shift
of hypophysis and a large arachnoid cyst. 相似文献
76.
PURPOSE: To establish the relationship between intraocular pressure (IOP) and obesity in children. METHODS: Seventy-two obese children (body mass index in the 95th percentile or greater) were compared with 72 age-matched and sex-matched controls (body mass index <95th percentile). Both groups underwent Goldmann applanation tonometry (3 times), blood pressure measurement (3 times), and Hertel exophthalmometry. Paired and unpaired t tests and the Cochran-Mantel-Haenzel statistics were used for statistical analysis. RESULTS: The mean IOP between the obese children and controls were significantly different (P<0.0001), even after adjusting for systolic and diastolic blood pressure (P<0.001). Diurnal variation of IOP was higher in obese children (P<0.001). Obese children had higher Hertel values (P<0.001). Sex did not significantly effect IOP in either group (P>0.05). CONCLUSIONS: In addition to its indirect effect on IOP via blood pressure change, obesity is also an independent risk factor for increased IOP. 相似文献
77.
Altan-Yaycioglu R Akova YA Akca S Gur S Oktem C 《Journal of refractive surgery (Thorofare, N.J. : 1995)》2007,23(5):515-518
PURPOSE: To investigate the refractive results of clear corneal incision performed at the steepest meridian of pre-existing corneal astigmatism. METHODS: One hundred eighty-two patients with astigmatism > 0.75 diopters (D) were evaluated. Superior, temporal, nasal, superotemporal, or superonasal clear corneal incisions were performed at the steep meridian. Refraction, visual acuity, and topography values were evaluated, and changes in surgically induced astigmatism were calculated by vector analysis using the Fourier formula. Paired t test was used to compare mean values. RESULTS: Postoperative cylinder values showed minor changes in all groups, except the nasal group. Nasal incision increased preoperative cylinder from 1.13 D to 1.83 D 6 months after surgery. Temporal and superotemporal incisions resulted only in small astigmatic changes. Conversely, superior, superonasal, and nasal incisions induced more pronounced astigmatism. CONCLUSIONS: Performing clear corneal incision for phacoemulsification of cataract at the steep meridian resulted in small changes with temporal incisions, whereas nasal incisions resulted in higher surgically induced astigmatism. 相似文献
78.
PURPOSE: To compare the symptoms, signs, and results of objective tests for dry eye syndrome (DES) in type 1 diabetes mellitus (T1DM) patients and controls. METHODS: A total of 104 children with T1DM and 104 age- and sex-matched controls were compared in terms of the symptoms, signs, and results of objective tests for DES. Duration of T1DM, presence of diabetic retinopathy, mean hemoglobin A1c level, pubertal status, and a history of accompanying autoimmune disease were noted in T1DM group. Analysis of variance, multivariate regression analysis, Student t, Mann-Whitney U, and chi-square tests were used for statistical analysis. RESULTS: A total of 15.4% of diabetic children complained of dry eye symptoms, versus 1.9% of the controls (p=0.029). Dry eye signs were detected in 7.7% of diabetic children, versus 0.96% of controls (p=0.034). Tear break-up time (TBUT) and Schirmer test results were significantly lower in T1DM group than controls (p=0.018, p=0.024, respectively). A total of 7.7% of diabetic children had definite and 0.96% had probable diagnosis of DES, versus none of the controls (p=0.03). TBUT and Schirmer test results were significantly lower in patients with more than 10 years duration of T1DM (p<0.001 for both). CONCLUSIONS: The prevalence of symptoms, signs, and definite diagnosis of DES are higher and basal tear secretion and tear film stability are lower in diabetic children than controls. Duration of T1DM is the only disease-related variable which is associated with basal tear secretion and tear film stability. 相似文献
79.
Ozgur Akbay?r Aytul Corbac?oglu Esmer Ceyhun Numanoglu B. Pinar C?les?z Goksedef Aysu Akca Lale Vuslat Bak?r Oguzhan Kuru 《Archives of gynecology and obstetrics》2012,286(5):1269-1276
Aim
To examine the influence of obesity on the patient characteristics and clinicopathologic features of endometrial cancer, and to find how treatment and prognosis were affected by obesity in women with endometrial cancer.Methods
The data of 370 consecutive women operated for endometrial cancer were retrospectively reviewed. Patients were divided into three categories as <25, 25–29.9 and ≥30 according to BMI. All patients underwent primary surgical treatment including total abdominal hysterectomy, bilateral oophorectomy and peritoneal cytology. Pelvic lymphadenectomy was carried out for all patients except for those with no myometrial invasion regardless of the tumor grade or for whom it was technically impossible. Paraaortic lymphadenectomy was performed when pre- and intraoperative assessments suggested non-endometrioid or grade 3 endometrioid cancer, >50?% myometrial invasion and cervical involvement.Results
Patients with a BMI (body mass index) of <25 were significantly younger. Patients with a BMI of ≥30 were statistically less likely to have >50?% myometrial invasion and more likely to have stage I disease. There were no significant differences in the incidences of positive pelvic and paraaortic lymph nodes and tumor grades between the three groups. Also, there were no differences in surgery type, the mean of removed pelvic and paraaortic lymph node number, hospital stay, blood loss and complications between the groups. The patients with a BMI of ≥30 had significantly longer operating time. There were no statistically significant differences in recurrences, the median number of months at recurrence or the site of recurrence between the three groups, as well as the 5-year overall and disease-free survival of patients. Multivariate proportional hazard models identified stage III and IV disease as significant covariates for mortality rates, while stage III and IV disease, hypertension and pelvic irradiation were identified as significant covariates for recurrence rates.Conclusion
Positive peritoneal cytology, deep myometrial invasion and stage II–IV endometrial cancer were significantly more common in patients with a BMI of <25. There were no significant differences in tumor grade, surgical technique, surgical morbidity or adjuvant radiotherapy between the BMI groups. Recurrence and cancer-related mortality rates were not affected by the BMI. 相似文献80.