A Novel Pathogenic DNA Variation in the OCRL1 Gene in Lowe Syndrome

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by congenital cataracts, renal tubular dysfunction, cognitive problems and maladaptive behavior. The syndrome is caused by pathogenic DNA variations in the X-linked OCRL1 gene. A 24-month-old boy was referred to our hospital with delayed motor milestones, hypotonia, involuntary purposeless movements of hands and feet, congenital cataract, severe feeding difficulties, and failure to thrive. Physical examination at the age of 24 months revealed a body weight of 7350 g (-5.1 SDS). Length was 71 cm (-5.1 SDS) and head circumference 45 cm (-3.9 SDS). He had deep-set small eyes, frontal bossing, flat occiput, parietal prominence, bilateral congenital cataract, cryptorchid left testis, joint hypermobility, decreased muscle tone, and hyporeflexia. Biochemical analysis revealed the characteristic findings of renal Fanconi syndrome. Genetic analysis showed a novel pathogenic DNA variation (c.1528C>T) in exon 15 of the OCRL1 gene. Clinical findings and genetic analysis confirmed the diagnosis of OCRL syndrome

Real-world efficacy and safety of Ledipasvir plus Sofosbuvir and Ombitasvir/Paritaprevir/Ritonavir +/- Dasabuvir combination therapies for chronic hepatitis C: A Turkish experience

Background/Aims: This study aimed to evaluate the real-life efficacy and tolerability of direct-acting antiviral treatments for patients with chronic hepatitis C (CHC) with/without cirrhosis in the Turkish population.Material and Methods: A total of 4,352 patients with CHC from 36 different institutions in Turkey were enrolled. They received ledipasvir (LDV) and sofosbuvir (SOF)+/- ribavirin (RBV) ombitasvir/paritaprevir/ritonavir +/- dasabuvir (PrOD)+/- RBV for 12 or 24 weeks. Sustained virologic response (SVR) rates, factors affecting SVR, safety profile, and hepatocellular cancer (HCC) occurrence were analyzed.Results: SVR12 was achieved in 92.8% of the patients (4,040/4,352) according to intention-to-treat and in 98.3% of the patients (4,040/4,108) according to per-protocol analysis. The SVR12 rates were similar between the treatment regimens (97.2%-100%) and genotypes (95.6%-100%). Patients achieving SVR showed a significant decrease in the mean serum alanine transaminase (ALT) levels (50.90 +/- 54.60 U/L to 17.00 +/- 14.50 U/L) and model for end-stage liver disease (MELD) scores (7.51 +/- 4.54 to 7.32 +/- 3.40) (p<0.05). Of the patients, 2 were diagnosed with HCC during the treatment and 14 were diagnosed with HCC 37.0 +/- 16.0 weeks post-treatment. Higher initial MELD score (odds ratio [OR]: 1.92, 95% confidence interval [CI]: 1.22-2.38; p=0.023]), higher hepatitis C virus (HCV) RNA levels (OR: 1.44, 95% CI: 1.31-2.28; p=0.038), and higher serum ALT levels (OR: 1.38, 95% CI: 1.21-1.83; p=0.042) were associated with poor SVR12. The most common adverse events were fatigue (12.6%), pruritis (7.3%), increased serum ALT (4.7%) and bilirubin (3.8%) levels, and anemia (3.1%).Conclusion: LDV/SOF or PrOD +/- RBV were effective and tolerable treatments for patients with CHC and with or without advanced liver disease before and after liver transplantation. Although HCV eradication improves the liver function, there is a risk of developing HCC.Turkish Association for the Study of The Liver (TASL

Isolated Microspherophakia Presenting with Angle-Closure Glaucoma

We report a case of 13-year-old girl presenting to our clinic with blurred vision in both eyes. Ophthalmic examination revealed high myopia and angle-closure glaucoma due to pupillary block caused by small, spherical crystalline lenses. Treatment approaches to glaucoma in patients with microspherophakia are discussed in this case report

Comparison of Makorin Ring Finger Protein 3 Levels Between Obese and Normal Weight Patients with Central Precocious Puberty

INTRODUCTION: Genetic studies of familial central precocious puberty (CPP) have suggested that makorin ring finger protein 3 (MKRN3) is the primary inhibitor of gonadotropin-releasing hormone secretion. Obesity in girls can cause early puberty by affecting the hypothalamic-pituitary-gonadal axis. This study evaluated serum MKRN3 levels of patients with CPP and its relationship with body mass index (BMI). METHODS: The study included 92 CPP and 86 prepubertal healthy controls (HC) aged 6-10 years. The CPP and HC groups were divided into obese and non-obese subgroups to evaluate whether BMI affects MKRN3. Patients’ presenting complaints, chronological age, height age, bone age, Tanner stage, standard deviation scores for weight, height, and BMI, levels of follicle-stimulating hormone, luteinizing hormone, estradiol, and MKRN3, and pelvic ultrasonography findings were recorded. RESULTS: Serum MKRN3 levels were lower in the CPP group and lowest in the CPP-obese subgroup. There were significant differences in MKRN3 levels between the CPP-obese and CPP-normal weight (p=0.02), CPP-obese and HC-obese (p<0.001), and CPP-obese and HCnormal weight (p=0.03) groups. MKRN3 and BMI were negatively correlated in all cases (r=-0.326, p<0.001). DISCUSSION AND CONCLUSION: The negative correlation between BMI and MKRN3, and lower MKRN3 levels in CPP-obese patients, suggests that adipose tissue has a role in the onset of puberty. More comprehensive studies are needed to determine the relationship between MKRN3 and adipose tissue

Assessment of magnesium status in newly diagnosed diabetic children: measurement of erythrocyte magnesium level and magnesium tolerance testing

WOS: 000230607400006PubMed: 16052852The aim of this study was to investigate the relationship between serum, erythrocyte and urine magnesium levels and retained magnesium percentage in newly diagnosed diabetic children. In a cross-sectional study, 34 children with insulin dependent diabetes mellitus (IDDM) and 21 healthy age- and sex-matched control subjects were screened for their serum, erythrocyte, and urine magnesium levels. Magnesium tolerance test was performed on diabetic and control subjects: Serum and erythrocyte magnesium levels in diabetic children were significantly lower than in healthy controls (plasma magnesium, p < 0.05; erythrocyte magnesium, p < 0.001); however, serum magnesium level was in normal range in diabetics and controls. Erythrocyte magnesium levels in diabetic children showed an inverse correlation with percentage of retained magnesium load (r=-0.44, p < 0.01). Urine magnesium excretion in diabetic children (7.12 +/- 2.18 mmol/g creatinine/24-hr) was significantly higher than in healthy controls (4.0 +/- 1.35 mmol/g creatinine/24-hr) (p < 0.001). There was a negative correlation between erythrocyte magnesium (2.07 +/- 0.62 mmol/L) and urine magnesium (7.12 +/- 2.18 mmol/g creatinine/24-hr) (r=-0.68 p < 0.01) in diabetic children. Magnesium tolerance test showed that percentage of retained magnesium in diabetic children (66 +/- 26%) was significantly higher than in controls (16 +/- 7%) (p < 0.001). This study is the first study to simultaneously investigate serum, erythrocyte and urine magnesium levels and magnesium tolerance test in newly diagnosed diabetic children. In conclusion, erythrocyte magnesium levels decrease earlier than serum magnesium in diabetic children. The follow-up parameters in diabetics may include the policy of monitoring magnesium status. Erythrocyte magnesium measurement is preferred to serum magnesium. Magnesium tolerance test is a reliable and sensitive method, which may be used as an alternative to erythrocyte magnesium measurement or in combination with it in hospitalized diabetic children

Hypogonadotropic hypogonadism and growth hormone deficiency in a patient with primary hypothyroidism associated with pituitary hyperplasia mimicking pituitary macroadenoma

WOS: 000239630600633

Fibrodysplasia ossificans progressiva: Case report

Fibrodisplazi ossifikans progressiva (FOP), oldukça nadir görülen bir genetik hastalıktır. FOP olgularında az sayıda hastada otozomal dominant genetik geçiş bildirilmekle birlikte genellikle sporadik mutasyonlarla oluşmaktadır. Hastalığın önlenmesinde ve tedavisinde kesin bir yaklaşım yoktur. Erken tanı konulması, hastalığın progresyonunu hızlandıran gereksiz tanı ve tedavi prosedürlerinin engellenmesi açısından çok önemlidir. Burada, ilk semptomları 9 aylıkken yapılan aşı sonrasında sol deltoid bölgede görülen şişlik ve sertlik olarak başlayan, lezyon bölgesinden yapılan eksizyonel biyopsi ve sağ kolundan yapılan kemik biyopsisi sonrası sık oluşan alevlenmeler ile ilerleyici karakterde klinik sergileyen bir olgu sunuldu. Semptomatik tedavi ve profilaktik önlemler ile hastanın yaşam süresi ve kalitesinin arttırılması amaçlandı. Hastamızın takibinde, alevlenme dönemlerinde oral prednizolon, alendronat ve pamidronat tedavileri uygulandı.Fibrodysplasia ossificans progressiva (FOP) is a very rare genetic disorder. Most cases of FOP arise as a result of spontaneous mutation. A few patients with an autosomal dominant genetic transmission are reported. There is no definitive approach to the prevention and treatment of disease. Early diagnosis prevents unnecessary diagnostic and therapeutic procedures which lead to the progression of the disease. Here, we present a case whose first symptoms began at 9 months of age with swelling and stiffness at the vaccinated region and progressed with exacerbations after the excisional biopsy of the lesion and the bone biopsy of the right arm. Symptomatic treatment and prophylactic measures aimed to improve the quality of life. Exacerbations during follow up were treated with oral prednisolone, alendronate and pamidronate

Pituitary hyperplasia mimicking pituitary macroadenoma in two adolescent patients with long-standing primary hypothyroidism: case reports and review of literature

WOS: 000274692900019PubMed: 20196402We report two cases with primary autoimmune hypothyroidism and an ectopic thyroid gland causing pituitary enlargement mimicking pituitary macroadenoma. One of the cases presented with complaints of headache and short stature and the other case with a complaint of menorrhagia. In both cases, the pituitary mass and symptoms resolved with levothyroxine replacement. Normal menses resumed. However, pituitary dynamic tests revealed persistent growth hormone and gonadotropin deficiency in one case and growth hormone deficiency in the other. To our knowledge, this is the first report in an adolescent of hypogonadotropic hypogonadism, growth hormone deficiency, and menorrhagia associated with pituitary hyperplasia secondary to primary hypothyroidism. The recognition of the association between reversible pituitary hyperplasia and primary hypothyroidism might eliminate unnecessary surgery

Subacute sclerosing panencephalitis (SSPE) associated with congenital measles infection

WOS: 000228821500011PubMed: 15884631A 13-month-old male presented with repetitive episodes of myoclonic jerks of the head and extremities for two months. His past medical history revealed that his non-immunized mother had measles at the time of delivery. Measles antibody titers in serum and cerebrospinal fluid (CSF) were 1/512 (hemagglutinin inhibition [HI]) and 1/128 HI, respectively. Immunofixation electrophoresis of CSF revealed an oligoclonal IgG band. The magnetic resonance imaging (MRI) of the brain on T2-weighted images showed lesions of high signal intensity in the subcortical white matter. Electroencephalography (EEG) revealed periodic high-amplitude slow waves. Diagnosis of subacute sclerosing panencephalitis (SSPE) was based upon clinical presentation, a characteristic EEG, and abnormal CSF studies. MRI findings supported the diagnosis. To the best of our knowledge, this is only the 3(rd) case to date, of SSPE-associated congenital measles in the literature

Vitamin D-resistant rickets, primary hypothyroidism, and diabetes insipidus associated with infantile cystinosis

WOS: 000239630600445