Low ALT blood levels predict long-term all-cause mortality among adults. A historical prospective cohort study.

BACKGROUND: Increased blood levels of alanine amino transferase (ALT, also known as SGPT; serum glutamic pyruvic transaminase) serve as a marker of liver injury by various mechanisms. Less is known about the clinical implications associated with low-normal ALT levels. Previous studies showed low ALT levels to be associated with poor long-term outcomes among elderlies, serving as a biomarker for increased incidence of frailty and subsequent risk of mortality. However, it has not been determined yet whether low-normal ALT values might be predictive of frailty and mortality in younger, middle-aged adults. METHODS: We conducted a historical prospective cohort analysis. RESULTS: A total of 23,506 adults with ALT levels within the normal range, at the mean age of 48 ± 11 years, participating in an annual screening program for preventive medicine, were followed-up for a median period of 8.5 years during which 638 died. Low-normal ALT values (serum ALT activity <17IU/L) were found to be predictive for increased risk of all-cause mortality (HR=1.6; 95% CI 1.34-1.92; p<0.001). Statistically significant correlation was demonstrated even after applying a multifactorial model correction for age, gender, eGFR, low albumin, arterial hypertension, diabetes mellitus and ischemic heart disease. CONCLUSIONS: We suggest that low-normal ALT values may serve as an independent predictive marker for increased long-term mortality in middle-aged adults.

Intraplacental choriocarcinoma metastasizing to the maternal lung.

BACKGROUND: Although normal pregnancy is the precursor of 25% of cases of maternal choriocarcinoma, intraplacental choriocarcinoma in an otherwise normal placenta associated with viable pregnancy has rarely been reported. CASE: Examination of the placenta after delivery of a pale and small-for-date infant at term revealed intraplacental choriocarcinoma. There was no evidence of metastatic disease in the mother or child, but the mother exhibited postpartum rising levels of beta-HCG. The mother refused chemotherapy and disappeared from follow-up. Nine months later, she presented with metastatic choriocarcinoma of the lung. Eleven courses of the multi-drug EMA CO regimen effected a decrease of beta-HCG to normal and disappearance of lung metastases. To date, 28 months after the end of chemotherapy, the patient is alive and without evidence of gestational trophoblastic disease. Moreover, since then she has given birth to an additional two children. CONCLUSIONS: This case is an example of natural disease progression of intraplacental choriocarcinoma metastasizing to the mother. Furthermore, it supports common knowledge that the multi-drug EMA CO regimen is effective treatment in poor prognosis metastatic choriocarcinoma.

Thoracoabdominal peripheral primitive neuroectodermal tumors in childhood: radiological features.

Peripheral primitive neuroectodermal tumors (PNET) are extremely uncommon, malignant neoplasms affecting mostly children and young adults. We retrospectively reviewed the clinical data and radiological studies of four such cases. All cases were pathologically proven. Plain films, US, and CT scans were used. The youngest child had a huge pelvic tumor and two adolescents each had a chest wall (Askin) tumor. The fourth patient had a most unusual location of the PNET in the anterior mediastinum. The CT findings are emphasized. We emphasize that the markedly abnormal CT findings are not specific for PNET.

Oligohydramnion, renal failure and no pulmonary hypoplasia in glomerulocystic kidney disease.

Two newborns with glomerulocystic kidney disease manifesting as late onset oligohydramnion and neonatal anuria, yet without severe respiratory distress, are presented. They had a similar perinatal course and associated clinical manifestations. No associated congenital or inherited malformation syndrome could be defined. Both infants' parents were first degree cousins and belonged to the same small Bedouin tribe, and neither they nor the infants' siblings had polycystic kidneys or renal insufficiency, pointing to either a possible genetic etiology or a common external toxic exposure.

Granular cell tumor (myoblastoma) of the labia major: a rare benign tumor in childhood.

The clinical presentation, surgical findings, and histology of a granular cell tumor (myoblastoma) of the vulva in a 9-year-old girl are presented. Although rare, this benign lesion must be considered in the differential diagnosis of the labia major masses, such as Bartholin's duct cyst, lipoma, papilloma, hydradenoma, and fibroma.

Severe, diffuse osteosclerosis: A new manifestation of transitional cell carcinoma of the urinary bladder.

A 56 year-old man with a 2-year history of transitional-cell carcinoma of the urinary bladder presented with back pain and diffuse radiological osteosclerosis. Laboratory studies revealed borderline-low ionized serum calcium, and markedly elevated serum alkaline phosphatase (ALP) activity and serum osteocalcin. Serum acid phosphatase and prostatic-specific antigen (PSA) were normal. Serum 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D were just below the normal limit and parathyroid hormone was moderately elevated. A transiliac bone biopsy specimen revealed expanded bone trabeculae, abundance of osteoid-covered surfaces, and heavy metastatic spread. To the best of our knowledge, this is the first description of the association of osteosclerosis and metastatic transitional-cell carcinoma of the bladder.

Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease.

The simultaneous appearance of epidermolysis bullosa and pyloric atresia (EB-PA) is recognized as an autosomal recessive disease; however, the coappearance of EB-PA and aplasia cutis congenita (ACC) has not been delineated as a defined entity. The aim of this study was to analyze clinically and histopathologically eight cases with EB-PA-ACC belonging to an extended Bedouin family to gain insight into the cause and pathophysiology of the disease. All affected infants were found to have mixed skin lesions, including blisters and patchy lack of skin. Almost all of them (seven of eight) also had intestinal obstructions, especially pyloric atresia or stenosis. Skin lesions involved all skin layers with marked dystrophic changes. The intestinal obstruction was the result of overproliferation of connective tissue. In view of the clinical and histopathological findings, it is postulated that the condition is caused by an autosomal recessive gene affecting the integrity of the basement membrane and hemidesmosomes and the control of the normal process of fibrosis occurring during the course of wound healing. The sequence of events is initiated by the separation of the epidermis or the intestinal mucosal layer. Then, inflammatory reaction takes place and proceeds with massive fibrosis penetrating the deep layers and causing damage of skin and obstruction of the intestinal lumen. In view of the recent findings regarding the molecular basis of EB-PA, the described phenotype may result from a mutation in one of the integrin genes.

Chorioangioma of the placenta in association with early severe polyhydramnios and elevated maternal serum HCG: a case report.

We report a case of a chorioangioma of the placenta which was associated with elevated maternal serum HCG in the second trimester, severe early polyhydramnios and premature delivery. Chorioangioma should be considered in the differential diagnosis of an elevated HCG observed as part of the triple test.

CT findings in neonatal hypothermia.

BACKGROUND: Newborn infants are particularly prone to hypothermia, a condition with a high mortality. OBJECTIVE: To study the CT brain patterns in infants with hypothermia and neurological symptoms. MATERIALS AND METHODS: We reviewed the brain CT of nine infants with neonatal hypothermia, multiple organ failure, seizures and coma. RESULTS: Two infants had normal CT scans, acutely and at follow-up, and were clinically normal at follow-up. In seven infants, CT showed diffuse cerebral oedema, with reversal of the normal density relationship between grey and white matter and a relative increased density of the thalami, brainstem and cerebellum - the 'reversal sign'. In six surviving infants with severe developmental delay, follow-up CT revealed cerebral atrophy with multicystic encephalomalacia. CONCLUSIONS: The 'reversal sign' has been described in the abused child, birth asphyxia and anoxia due to drowning. Neonatal hypothermia is offered as a further cause.

Ganglioneuroma: an 'incidentaloma' of childhood.

In adults clinically silent adrenal masses can be discovered incidentally in imaging studies. Most of these 'incidentalomas' are benign, non-functioning adenomas. In contradistinction, in infancy and childhood the most common adrenal mass is the neuroblastoma, a malignant neural crest tumour. Four children are described, each with a benign neural crest tumour - ganglioneuroma - incidentally discovered by conventional radiography or sonographic examination. Complete surgical excision resulted in total recovery of all the children.

Correlation of clinical characteristics and small bowel histopathology in celiac disease.

BACKGROUND: Literature information regarding clinical and histological correlates in celiac disease is limited. The present study was designed to assess the value of various clinical parameters in predicting the severity of small bowel histopathology. METHODS: Small bowel biopsy specimens of 59 children with established celiac disease (ESPGAN criteria) were evaluated blindly. Morphology was evaluated based on a common histopathology score. The following clinical variables were evaluated: age at diagnosis, duration of symptoms, severity score of clinical symptoms, severity score of physical signs, and growth parameters (height and weight Z scores). Multiple regression analysis was performed to evaluate the relative importance of each clinical parameter. RESULTS: Only three clinical variables revealed a significant correlation with the histopathology score. The symptom severity score (t = 3.883, p = 0.0003) demonstrated a positive correlation. The two others, age at diagnosis (t = 3.076, p = 0.0032) and duration of symptoms (t = -2.987, p = 0.0041), revealed a negative correlation. CONCLUSIONS: We conclude that more severe clinical symptoms of a shorter duration, presented at a younger age, are better predictors of a more severe form of small bowel histopathology in children with celiac disease.

Ovarian fibroma in a prepubertal girl.

Ovarian fibroma rarely occurs in prepubertal girls. However, we found such an asymptomatic, large, uncalcified pelvic mass in an otherwise healthy 12-year-old girl. The plain films (radiographs), US and CT findings are presented.

Inflammatory bowel disease in glycogen storage disease type 1 B.

Chronic inflammatory bowel disease has recently been reported in association with glycogen storage disease type 1 B. We report two cases of children affected by this disease in whom chronic recurrent ileocolitis and severe oesophagitis developed.

Palatal pleomorphic adenoma in a child.

Benign salivary gland tumours in childhood are rare. We present a case of a pleomorphic adenoma arising in a minor salivary gland within the hard palate, review the literature and discuss the diagnostic and therapeutic features of the condition.

Fatal multiple organ failure following massive hornet stings.

We describe a fatal outcome in a three-year-old child following massive stings by the oriental hornet (Vespa orientalis). The primary clinical features were coma, respiratory failure, coagulopathy, renal failure and liver dysfunction. On postmortem the main organs involved were brain, lungs, kidney and liver.