The relationship between the use of nucleos(t)ide analogs and metabolic parameters in patients with chronic hepatitis B.

OBJECTIVE: In the treatment of chronic hepatitis-B (CHB), although viral replication load is reduced with the use of nucleos(t)ide analogs, the risk of cirrhosis and hepatocellular carcinoma (HCC) remains. We aimed to investigate the relationship between metabolic syndrome (MetS) and CHB of nucleos(t)ide analogs, which are effective in mortality-morbidity. PATIENTS AND METHODS: In patients who applied to the gastroenterology outpatient clinic between 2021 and 2022, we compared inactive HBsAg-positive patients who did not receive treatment with nucleos(t)ide analogs [entecavir (ETV), lamivudine (LAM), tenofovir disoproxil fumarate (TDF), tenofovir alafenamide (TAF)] and medical treatment. Demographic characteristics of the patients were recorded. Lipid profile, Hemoglobin A1c (HbA1c), and HOMA-IR were recorded. The presence of hepatosteatosis was graded ultrasonographically. APRI, Forns Index, and FIB-4 score, which are indicators of non-invasive liver fibrosis, were evaluated. RESULTS: Of the 265 patients, 55.5% (n=147) were males and 44.5% (n=118) were females. The ages of the participants ranged from 18 to 80, with a mean age of 46.54±14.03. It was observed that 62.3% (n=165) of the cases received medical treatment. When the drugs used by those receiving medical treatment were examined, 70.3% (n=116) TDF, 6.1% (n=10) TAF, 3% (n=5) LAM, and 20.6% (n=34) ETV, LDL, HDL, and total cholesterol measurement values of those who received medical treatment were lower, while HOMA-IR values were higher compared to those who did not receive the medical treatment. While the HbA1c value of the patients using ETV was found to be high, the liver stiffness indicator scores of those using TDF were found to be significantly higher. CONCLUSIONS: In this study, in patients with CHB, it has been shown that medical treatment also affects MetS parameters.

Acute disseminated encephalomyelitis in children: outcome and prognosis.

BACKGROUND: Acute disseminated encephalomyelitis (ADEM) is the most common demyelinating disorder of childhood. Its clinical features, prognosis and treatment vary in different reports. OBJECTIVES: To examine a series of children with ADEM for clinical findings, course, recurrences, and possible variables affecting outcome. METHODS: Multicentric data collected from 7 tertiary referral centers were registered and evaluated in a central database in 1990 - 2001 for clinical, laboratory, and MRI features. Course and prognosis were assessed in patients with at least 12 months' follow-up. RESULTS: Forty-six patients were evaluated. Median age at onset was 8 years, M/F ratio, 1.7/1. Most common symptoms and signs pertained to the motor system and consciousness. Of 39 children with 12 months' follow-up, 71 % recovered completely. Thirteen (33 %) children had relapses. Patients who had more than one relapse (n = 4) presented with new symptoms at each attack. Treatment with high-dose methylprednisolone was associated with complete recovery, and tapering over more than 3 weeks, with a lower rate of relapses. MRI lesions could persist even in asymptomatic patients; in particular, periventricular lesions tended to disappear later than others. CONCLUSIONS: Complete clinical recovery is common and serious complications are rare in childhood ADEM, but the rate of relapses is considerable. Clinical picture at first relapse may help to identify patients likely to experience multiple relapses. The timing and duration of steroid treatment affects outcome.

Tumor necrosis factor-alpha gene polymorphisms in children with multiple sclerosis.

Tumor necrosis factor-alpha (TNF-alpha) is a cytokine implicated in the pathogenesis of infectious and autoimmune disorders including multiple sclerosis (MS). Childhood-onset MS presents some clinical and laboratory features differing from adult disease. We studied TNF-alpha - 238 G-->A and - 308 G-->A polymorphisms in 24 patients with childhood-onset MS using PCR-RFLP and compared them with healthy control subjects from the same population (n = 93). The genotypes and allele frequencies were not different between patient and control groups (p = 0.348, 95 %CI, 0.28 - 1.92, chi(2) = 0.10 and p = 0.797, 95 %CI, 0.312 - 2.285, chi(2) = 0.20 for - 238 and - 308 alleles, respectively). Although the size of the study group is small, these results do not support a role for TNF-alpha gene polymorphisms in susceptibility to MS in children.

Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome?

We report eight-year-old triplet girls whose clinical features included microcephaly, severe mental retardation, hypoplasia of distal phalanges of both fifth and second fingers and nail hypoplasia on second fingers, dysmorphic facial features, and partial corpus callosum agenesis. During infancy, a Pavlik harness was used for congenital hip dislocation, and they had difficulty in feeding. One had been operated for patent ductus arteriosus. To our knowledge, this rare combination has not been previously reported in triplets whose clinical features closely resemble those of Coffin-Siris syndrome. The other diagnostic possibilities are also reviewed.

Late hemorrhagic disease of the newborn.

BACKGROUND: Late hemorrhagic disease of the newborn (HDN) may occur without an underlying disorder or as a secondary manifestation of an underlying disorder. It may be seen in fully breast-fed infants without a routine supplementation of vitamin K. In contrast, idiopathic late HDN is defined as HDN without the presence of any risk factor, such as gastroenteritis or use of antibiotics. Severe hemorrhagic symptoms frequently occur. METHODS: Between March 1987 and May 1997, we evaluated 15 infants with idiopathic late HDN, who were diagnosed by detailed history, physical examination and laboratory findings. RESULTS: The age (mean +/- SD) at onset of symptoms was 62.4 +/- 33.9 days. All children were breast-fed infants and were born at term from healthy mothers. The delivery histories were uneventful. There was no history of vitamin K administration at birth. Signs and symptoms of the patients were convulsions (47%), feeding intolerance and poor sucking (47%), irritability (33%) and pallor (20%). In physical examination; there was bulging or full fontanel in 10 patients (67%), diminished or absent neonatal reflexes in nine patients (60%) and ecchymosis in three patients (20%). Before administration of vitamin K, prothrombin time (PT) was 76.1 +/- 43.0 s and partial thromboplastin time (PTT) was 123.4 +/- 68.8 s. Six to 12 h after administration of vitamin K, PT was 15.6 +/- 1.8 s and PTT was 33.4 +/- 1.0 s. Neurologic, gastrointestinal and skin hemorrhagic findings were found in 11 (73%), three (20%) and three patients (20%), respectively. There were both neurologic and skin bleeding symptoms in two patients. The mortality in the present study was 33%. CONCLUSIONS: Late HDN results in severe hemorrhage, especially hemorrhage in the central nervous system. Administration of vitamin K (1 mg, i.m.) at the birth can reduce these severe complications.

Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome: report of five cases.

We report five patients with Laurence-Moon-Bardet-Biedl syndrome (LMBBS) who had renal involvement. Intravenous pyelography showed bilateral or unilateral calyceal clubbing and blunting in all patients. In addition, one patient had a parapelvic cyst in the left kidney and another had bilateral lobulated renal outlines of the fetal type. One patient had a urinary concentrating defect and two patients showed increased fractional sodium excretion. Estimated tubular phosphate reabsorption values were in normal limits in all of five patients. No patient had a urine acidification defect, proteinuria, glycosuria, or hyperaminoaciduria. One patient died from end-stage renal failure. The remaining four patients had normal serum creatinine values and estimated creatinine clearances. 99mTechnetium-diethylenetriamine pentaacetate renal scanning showed prolonged and delayed concentration and delayed excretion in three of the four patients who survived. A focal scar was determined on the left kidney of one of four patients by 99mtechnetium-dimercaptosuccinic acid renal scanning. All LMBBS cases with or without renal symptoms should be routinely evaluated for renal abnormalities. Renal scanning is a valuable method, especially for determining the renal involvement in the early stage of disease.

Holoprosencephaly anomaly with nasal and premaxillar agenesis (possibly autosomal recessive type).

A one-day-old male infant with cleft lip and palate, microcephaly, hypotelorism, microphthalmia and absence of the nose is presented. The intermaxillar segment and nasal bone structure were not seen on radiological examination of the skull. Chromosome examination showed a 46, XY karyotype. On postmortem examination, the cerebrum was seen to be a single lobe. Olfactory nerves, corpus callosum and nasal formation, besides the septum were absent. The first and second ventricles were formed as a single ventricle. These findings were compatible with alobar holoprosencephaly.