A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation

Metabolic Brain Disease - Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died...     

Acute communicating haematocele: unusual presentation after blunt abdominal trauma without solid organ injury.

Haematocele is an unusual scrotal disorder in children, and is generally associated with direct trauma to the inguinoscrotal region. A 6-year-old boy with acute communicating haematocele who had a history of blunt abdominal trauma one week earlier is presented. Interestingly, no solid organ injury was detected on his previous admission for abdominal trauma, nor there was a history of hydrocele.     

Rotavirus gastroenteritis among children under five years of age in Izmir, Turkey

Little is known about the epidemiology of rotavirus infection in Turkey. The aim of the study was to determine the incidence and clinical significance of rotavirus gastroenteritis, in view of the potentially available prevention by rotavirus vaccination. The study also sought to determine possible risk factors for rotavirus gastroenteritis. Therefore, 920 children under five years of age with acute gastroenteritis admitted to three pediatric hospitals in Izmir were studied. Rotavirus was identified in 39.8% of the children. Most children with rotavirus gastroenteritis (80.7%) were younger than two years of age. Marked seasonality of rotavirus gastroenteritis was observed, with a peak incidence from January to March. A total of 91% of rotavirus strains that were typed were of serotypes G 1-4. There was no significant difference among rotavirus-positive and rotavirus-negative patients with regard to family income. Compared with children who were exclusively breast-fed, those who were not exclusively breast-fed were at a two-fold greater risk of rotavirus diarrhea. Rotavirus gastroenteritis was significantly more severe than non-rotavirus gastroenteritis; 69% of children with rotavirus infection had severe gastroenteritis (score > or = 11). In conclusion, rotavirus is the most common cause of severe gastroenteritis among children under five years of age in Izmir. A new potent rotavirus vaccine, when available, will provide effective protection against severe rotavirus infection. Promotion of breast-feeding would augment the impact of rotavirus vaccines in preventing severe childhood diarrhea.     

Persistent elevated serum levels of intact parathyroid hormone after reoperation for primary hyperparathyroidism and after pamidronate therapy

Primary hyperparathyroidism is a life-threatening rare disorder. It is seen as a result of neonatal primary hyperparathyroidism, familial hypocalciuric hypercalcemia, increased vitamin D levels and inactivation of calcium sensing receptor mutations. The clinical findings are hypotonia, bone demineralization, hypercalcemia and parathyroid hyperplasia. We present a six-month-old female patient, the first child of nonconsanguineous parents, who was referred for the investigation of failure to thrive, vomiting, constipation, fever, abdominal distention and hypotonia. Physical examination revealed weight under 3rd percentile, height 3rd-10th percentile, decreased subcutaneous fat, and distention of the abdomen. In neurological examination, hypotonia, motor-mental retardation, and active deep tendon reflexes were found. The biochemical values at the time of admission revealed primary hyperparathyroidism. Since hypercalcemia did not respond to calcitonin therapy and due to the mortality of hypercalcemia, parathyroidectomy was performed. Because hyperparathyroidism and hypercalcemia continued, angiography was done which revealed increased parathyroid hormone levels in the periphery of the innominate vein. Exploratory surgery followed, but hyperparathyroidism and hypercalcemia persisted after all of these procedures. Calcium-sensing receptor mutations and supernumerary gland were considered. Because hypercalcemia persisted, pamidronate therapy was initiated on a monthly basis.     

Adnexal torsion in children may have a catastrophic sequel: asynchronous bilateral torsion

Background/Purpose: Adnexal torsion is a serious condition that frequently may result in ovarian removal, and there always is a risk of castration if the contralateral ovary undergo torsion as well. In this study, the authors present their experience with adnexal torsion in 15 children and describe a catastrophic event, asynchronous bilateral adnexal torsion, with review of the literature.Methods: Between November 1993 and November 2000, 15 children under 15 years of age who had undergone operation because of torsion of uterine adnexal structures were evaluated. Two illustrative cases with asynchronous bilateral adnexal torsion are presented.Results: Fourteen cases were associated with additional adnexal pathology, whereas in 1 case the torsion was of normal uterine adnexa. Sonographic studies improved the preoperative diagnosis. Hemorrhagic necrosis of the adnexa secondary to the torsion was found in all cases except 3 and necessitated adnexal resection. In only 3 cases preservation of the adnexa was possible. Asynchronous adnexal torsion occurred in 2 patients in the time course. Both were treated by laparotomy and adnexal untwisting and fixation by permanent multiple interrupted sutures. In their final evaluation at 40 and 8 months after the operation, they were found to have good ovarian function.Conclusion: Considering the risk of subsequent contralateral torsion and its impact on future fertility, the authors believe that conservative management (untwisting the ovary and pexing, both retained detorsed and contralateral, ovaries) should be considered in cases of ovarian torsion in children.     

Imatinib induces autophagy through BECLIN-1 and ATG5 genes in chronic myeloid leukemia cells

Imatinib is a chemotherapeutic drug used for the treatment of chronic myeloid leukemia (CML). Recent data showed imatinib-induced cell death in various types of cancers. Autophagy is the physiological process in which cellular components are broken down by the lysosomal activation. In this study, we aimed to examine the effects of imatinib on autophagy in addition to apoptosis in CML cells. Results suggested that imatinib induces autophagy in CML cells through inducing over-expression of BECLIN-1 and ATG5 genes with the statistical significance. Our results demonstrated that autophagy might be involved in imatinib-induced cell death.     

Role of psychiatric disorders and irritable bowel syndrome in asthma patients

OBJECTIVES:

The goals of the study were the following: 1) to determine the frequency of psychiatric disorders and irritable bowel syndrome in patients with asthma and 2) to compare the frequency of these disorders in patients with asthma to their frequency in healthy controls.

INTRODUCTION:

Patients with asthma have a higher frequency of irritable bowel syndrome and psychiatric disorders.

METHODS:

We evaluated 101 patients with bronchial asthma and 67 healthy subjects. All subjects completed the brief version of the Bowel Symptoms Questionnaire and a structured clinical interview for DSM-IV axis disorders (SCID-I/CV).

RESULTS:

There were 37 cases of irritable bowel syndrome in the group of 101 stable asthma patients (36.6%) and 12 cases in the group of 67 healthy subjects (17.9%) (p = 0.009). Irritable bowel syndrome comorbidity was not related to the severity of asthma (p = 0.15). Regardless of the presence of irritable bowel syndrome, psychiatric disorders in asthma patients (52/97; 53.6%) were more common than in the control group (22/63, 34.9%) (p = 0.02). Although psychiatric disorders were more common in asthma patients with irritable bowel syndrome (21/35, 60%) than in those without irritable bowel syndrome (31/62, 50%), the difference was not significant (p = 0.34). In asthma patients with irritable bowel syndrome and psychiatric disorders, the percentage of forced expiratory volume in 1 s (FEV₁) was lower than it was in those with no comorbidities (p = 0.02).

CONCLUSIONS:

Both irritable bowel syndrome and psychiatric disorders were more common in asthma patients than in healthy controls. Psychiatric disorders were more common in asthma patients with irritable bowel syndrome than in those without irritable bowel syndrome, although the differences failed to reach statistical significance. In asthma patients with IBS and psychiatric disorders, FEV₁s were significantly lower than in other asthma patients. It is important for clinicians to accurately recognize that these comorbid conditions are associated with additive functional impairment.     

Clostridial collagenase aggravates the systemic inflammatory response in rats with partial-thickness burns

AimClostridial collagenase A (CCA) has been shown effective in degrading collagen in eschar tissue and promoting healing in partial-thickness burns. As there are also reports of fever, leukocytosis, increased C-reactive protein (CRP) levels and septic complications during treatment with CCA, we aimed to determine in rats whether CCA aggravates the systemic inflammatory response.MethodsRats with partial-thickness burns were randomly divided into groups with either no dressing (ND), povidone-iodine dressing (PID) or CCA dressing (CCAD). Body weights and temperatures, blood leukocyte counts, and serum levels of CRP, interleukin-1β (IL-1β), interleukin-6 (IL-6) and tumour necrosis factor-α (TNF-α), were measured at 0, 3, and 24 h and days 3 and 7 from burn. Wounds were cultured on days 1, 3 and 7 and burn depth was evaluated on day 1.ResultsBody weights for all groups were significantly lower after burn, with highest loss (25.5%) in the CCAD group. At 3 h a significant drop in rectal temperature was noted in all groups. The CCAD group had higher rectal temperature levels than the PID group on days 3 and 7 (p < 0.05). Changes in serum levels of CRP, IL-1β, IL-6 and TNF-α were not significant in the ND and PID groups; the CCAD group showed a significant rise in serum levels of CRP on day 1, of IL-6 on day 3 and of TNF-α on day 7. Wound infection was more common in CCAD group and increased on days 3 and 7, but this was insignificant.ConclusionCCA aggravated the systemic inflammatory response in rats with partial-thickness burns, which is accompanied by a higher risk of infection.     

Description of Pediatric Tuberculosis Evaluated in a Referral Center in Istanbul Turkey

Purpose

Diagnosis of tuberculosis (TB) in children is more challenging than in adults. This study aimed to describe demographical, clinical and laboratory findings of children diagnosed with tuberculosis in Turkey, including the issues of contact tracing, culture positivity and forms of the disease.

Materials and Methods

Clinical and laboratory data of 51 children with a mean age of 8.0±4.6 years who were diagnosed with TB were retrospectively reviewed. Main diagnostic tools included tuberculin skin test, chest X-ray, sputum/gastric aspirate culture with sensitivity testing, and direct microscopy for acid-fast bacilli on available samples. Clinical characteristics and outcomes of the patients were examined.

Results

Thirty-six (70.6%) children were diagnosed with intra-thoracic and 15 (29.4%) with extra-thoracic tuberculosis. Twenty-eight of the patients had a positive Bacillus Calmette-Guérin vaccine scar (28/51, 54.9%) and 23/51 (45.1%) had a positive tuberculin skin test. An adult TB contact was identified in 27 (52.9%) of the cases. On direct microscopy, acid-fast bacilli were found in nine (17.6%) patients and positive culture for Mycobacterium tuberculosis was found in 19 (37.3%). Drug resistance to isoniazid was detected in four (7.8%). One patient with nephrotic syndrome and miliary tuberculosis died during follow-up. All other patients responded well to the treatment.

Conclusion

Focusing on active contact tracing among all household contacts of tuberculous cases may be helpful in early identification and controlling childhood disease, even in regions with low disease prevalence. Adopting a suspicious and proactive approach in this particular age group is warranted.     

Hepatitis A with Pleural Effusion,Ascites and Acalculous Cholecystitis

Background

Hepatitis A virus (HAV) infection constitutes an important health problem in developing countries. It is usually a benign self-limiting disease, but may present with atypical clinical findings.

Case Presentation

A twelve-year-old male with ascites, pleural effusion, and acalculous cholecystitis during the course of HAV infection is reported. He was managed conservatively and clinical improvement was observed with resolution of HAV infection.

Conclusion

To our knowledge, this is the first case in which all these three rare complications were observed in a single patient in the early period of disease.