Cerebral Palsy

Cyclophilin D (Cyp D) is implicated in cell death pathway and blockade of Cyp D could be a potent therapeutic strategy for degenerative disorders such as Alzheimer’s disease, ischemia, and multiple sclerosis, but physiological role of Cyp D remains elusive. Here, we investigated the ability of learning and memory in several behavioral tasks in mice that lacked Cyp D (Cyp D(-/-)) and the relationship between ability of learning and memory and hippocampal architecture or neuronal transmission in Cyp D(-/-) mice. Cyp D(-/-) mice showed impairments of short-term memory in the Y-maze, object recognition memory in the novel-object recognition test, reference memory in the water maze test, and associative learning in the conditioned fear learning test. Hippocampal infusion of Cyclosporine A, which binds to Cyp D, replicated the defect in hippocampus-dependent cognition observed in Cyp D(-/-) mice. The Cyp D(-/-) mice did not show histopathological abnormalities upon Nissl staining and GFAP immunostaining or irregular expression of neuronal and glial marker proteins on Western blotting. However, release of glutamate and acetylcholine was decreased from the hippocampus in response to high-potassium treatment in the Cyp D(-/-) mice than in the wild-type mice. These results suggest a physiological role for Cyp D in learning and memory via the regulation of neurotransmission. (c) 2009 Wiley-Liss, Inc.

Background: Several studies have reported that primary hyperparathyroidism is a risk factor of higher cardiovascular mortality, mainly because hyperparathyroidism is related to arterial hypertension, arrhythmias, structural heart abnormalities and activation of the renin-angiotensin- aldosterone system. However, very few studies have shown the electrocardiographic changes that occur after parathyroidectomy. That was the aim of this study. Methods: We studied 57 consecutive patients with primary hyperparathyroidism surgically treated. Electrocardiogram, serum electrolytes, parathyroid hormone, creatinine and albumin measures were obtained before and after surgery and were compared. Results: The most common basal electrocardiographic abnormalities were left ventricular hypertrophy (LVH, 24.6%), conduction disturbances (16.3%), and short QT and QTc intervals. After surgery, a QTc interval lengthening and a tendency of T wave shortening were observed, as well as an inverse association between QTc interval and serum levels of magnesium and corrected calcium. There were no differences in LVH and conduction disturbances after surgery. Conclusions: Primary hyperparathyroidism is an important factor in the development of electrocardiographic abnormalities in this population, some of which are not corrected after parathyroidectomy. Further studies are required to demonstrate what factors are associated with persistence of electrocardiographic disturbances after surgery.

The authors report a 5.5-year-old male patient with a right paraspinal tumor, diagnosed as metastatic Ewing sarcoma. The pleural fluid along with the bone marrow was sent to the authors’ laboratory for karyotyping. Bone marrow cultures revealed a normal karyotype, whereas 48, XY, i(1)(q11), +10, t(11;22)(q24;q12) karyotype was found in the cells obtained from the pleural fluid cultures. Trisomy 1q is quite frequently observed in Ewing sarcoma patients, mostly as part of unbalanced translocations, along with the common t(11;22) translocation. This patient’s findings were significant, as the complex karyotype in the pleural effusion cells was observed.

An excessive incidence of non-Hodgkin’s lymphoma (NHL) has been reported among farmers and other occupational groups working with pesticides. Some pesticides exhibit immunotoxic and genotoxic activities. Individuals exposed to pesticides have also been found to have an increased prevalence of chromosomal abnormalities including the t(14;18)(q32;q21), one of the most common chromosomal abnormalities in NHL. Two recent epidemiologic studies reported that the association between pesticide exposures and risk of NHL was largely limited to NHL cases with the chromosomal translocation t(14;18). This review summarizes the findings from these epidemiologic studies, speculates on implications, and suggests the research needed to clarify the role of pesticides in NHL.

Congenitally corrected transposition of the great arteries (CCTGA) is a rare and complex congenital anomaly characterized by atrial-ventricular (AV) discordance and ventricular-arterial discordance. Ventricular noncompaction (VNC) is a rare unclassified cardiomyopathy due to the arrest in intrauterine endomyocardial morphogenesis and it is characterized by numerous prominent trabeculations and intratrabecular recesses. We reported the case of a 47-year old female patient. When she was 35-year old an “isolated” CCTGA was diagnosed because of a heart murmur. Since then she attended periodically echocardiograms. She showed us 2 of them where right ventricle apical trabeculation was reported, without any others details. We performed a periodic evaluation in a patient still active, with a 6-month history of mild dyspnea occurring during exertion, no episodes of chest discomfort or palpitation. The ECG showed ectopic atrial rhythm, 83 bpm, normal QRS duration, QS complex in V1-V2 leads. The echocardiogram demonstrated: CCTGA, moderate enlargement and dysfunction of the right systemic ventricle, moderate to severe systemic AV valve regurgitation, severe thinning and dyskinesia of the basal segment of the septum, apical and mid-segments prominent and numerous trabeculations with deep intertrabecular recesses, better showed by Color Doppler, in continuity with the ventricular cavity. This case presents some distinctive features: (1) the association between two rare congenital anomalies; (2) Striking right VNC, involving the apex and mid-segments, rarely described in literature; right VNC has been proposed according to the presence of 3 over 4 criteria proposed by Jenni et al. (Heart 86:666-671, 2001); (3) Severe thinning and dyskinesia of the basal segment of the septum, probably related to coronary artery abnormalities frequently described in CCTGA patients.

Noonan syndrome is characterised by short stature, typical facial dysmorphology and congenital heart defects. Urogenital abnormalities are reported in 10% of the cases. We present a 14-year-old girl with characteristic features of Noonan syndrome and nephrotic-range proteinuria. She had crossed fused ectopic kidneys. Renal biopsy showed focal segmental glomerulosclerosis. Oral steroids were instituted and she responded well. The case highlights this novel renal presentation of Noonan syndrome.

Magnetic resonance imaging of the gastrointestinal tract is gaining increasing clinical acceptance and is being increasingly used for the evaluation of patients with celiac disease. The purpose of this article is to describe the MR features of celiac disease and its complications. The MR signal appearances of the intraluminal, mural, and mesenteric abnormalities in celiac disease can help in the evaluation of patients. Radiologists, therefore, should be familiar with the MR findings of patients with celiac disease.

A 28-week estimated gestational age infant presented to our neonatal intensive care unit at 6 days of life with intestinal perforation. Urgent surgical exploration revealed a perforated Meckel’s diverticulum (MD) with no other intestinal abnormalities. Pathologic examination of the specimen demonstrated a perforated MD with no heterotopic mucosa present. According to our literature review, this is the first reported case of a perforated MD in a micropremature infant. In the English literature, there have been a total of seven reported cases of perforated MD in the last 25 years. This report summarizes those cases and characterizes the presentation, prognosis and management of this very rare complication in neonates.

Microcephaly results from inadequate brain growth during development. It may develop in utero, and therefore be present at birth, or may develop later as a result of perinatal events or postnatal conditions. The aetiology of microcephaly may be congenital (secondary to cerebral malformations or metabolic abnormalities) or acquired, most frequently following an ischaemic insult. This distinct radiological and pathological entity is reviewed with a specific focus on aetiology.

Bisphosphonates (BPs) are clinically used for the treatment of bone metabolic abnormalities because they are powerful inhibitors of bone resorption. Osteonecrosis of the jaw has been observed after tooth extraction in a considerable number of BP-treated cancer patients, but the reason for this is not known. We studied the effects of BP on extraction socket healing in rats that were pretreated with BP prior to tooth extraction. Male Wistar rats (approximately 5 weeks old) were divided into experimental (BP) and control groups. In both groups, maxillary right second molars were extracted under general anesthesia. BP group rats were injected with 50 mul (1.0 mg/kg) alendronate into the right buccal alveolar bone every 4 days for 14 days, starting 2 days before tooth extraction. Control group rats were injected with physiological saline instead of alendronate. Rats were euthanized 3, 7, 10 or 14 days after tooth extraction, and maxillary bones were collected. Bone morphometric analysis using microfocus X-ray CT images and calculation of bone-resorption parameters based on hematoxylin and eosin or TRAP-stained pathological sections of the molar region showed that new bone formation in the extraction socket was delayed in the BP group relative to the control group during the first 7 days after extraction. A subsequent increase in new bone formation showed that bone resorption in the BP rats was eventually inhibited. This delay in initial healing may explain the jaw osteonecrosis observed in some BP-treated cancer patients.