Sclerosing cholangitis and intracranial lymphoma in a child with classical Wiskott-Aldrich syndrome.

Patients with Wiskott-Aldrich syndrome (WAS) are predisposed to malignancy and autoimmunity in addition to infections. We report a male child with WAS, who had presented with recurrent pneumonia, eczema, thrombocytopenia, autoimmune hemolytic anemia, and vasculitic skin lesions. Genetic analysis revealed a classical genotype WAS 155C>T; R41X. At 2 years of follow-up, he developed persistent headache and progressive hepatomegaly. Brain imaging showed a mass in the right frontal region, which on histopathology was shown to be high-grade non-Hodgkin lymphoma. Magnetic resonance cholangiopancreatography showed features of sclerosing cholangitis. This report extends the clinical spectrum and highlights unusual manifestations of sclerosing cholangitis and intracranial lymphoma in a patient with WAS.

Impact of transsphenoidal surgery on asymptomatic cardiomyopathy in patients with acromegaly. A single-blinded study.

BACKGROUND: Patients with acromegaly have 2-3 times the expected mortality rates primarily due to cardiovascular risks. Echocardiographic studies showing improvement of cardiac function following transsphenoidal surgery (TSS) are limited. MATERIALS AND METHODS: All patients with acromegaly underwent preoperative echocardiography and tissue Doppler (Philips i33, 3D ECHO) for assessment of cardiac indices. In the prospective group of patients, echocardiography was repeated after 6 months of surgery. In the retrospective group of patients, echocardiography was performed for left ventricular diastolic dysfunction and ejection fraction. Biochemical cure was confirmed at least after 6 months by glucose-suppressed plasma growth hormone (GH) concentrations (GH-OGTT) of less than 0.4 ng/ml, random GH of less than 1 ng/ml, and normal age-corrected insulin-like growth factor (IGF-1) values. RESULTS: In the prospective group (38 patients), there was a significant decrease in the left ventricular mass (LVM) and LVM index (LVMI) in patients who were cured as well as in patients with postoperative growth hormone (GH) 1-5 ng/ml. In the prospective group, LVMI completely normalized in 2 and a new-onset deterioration was detected in 1 patient (who was not cured) and improved in 8 others. Left ventricular systolic function was abnormal at baseline in 18 (47.3%) patients, which normalized in 11 (61.1%) patients postoperatively, and in 7 patients, it improved significantly although it did not normalize completely. There was also a significant improvement in the left ventricular ejection fraction (P = 0.01). Post TSS, in patients with GH-OGTT >5 ng/ml, there was no significant decrease in the LVM, LVMI and ejection fraction (EF). In the retrospective group, 62 patients were analyzed for a change in the EF with a mean follow-up of 20.3 months. There was a significant improvement in the left ventricular EF in patients who were cured (P < 0.001). CONCLUSION: Reduction in growth hormone levels and insulin-like growth factor type 1 can decrease the LVM and LVMI, which directly or indirectly contributes to the improvement in diastolic as well as systolic function and probably mortality.

Prospective study of the correlation between admission plasma homocysteine levels and neurological outcome following subarachnoid hemorrhage: a case for the reverse epidemiology paradox?

BACKGROUND: Homocysteine (tHcy) has been known over the last few decades for its putative impact on vascular diseases, but has not been evaluated much in patients with subarachnoid hemorrhage (SAH). This study was carried out to assess its prognostic impact on the neurological outcome following SAH. METHODS: Admission plasma tHcy was evaluated in 90 SAH patients and prospectively studied in relation to various factors and the Glasgow Outcome Scale (GOS) at 3 months. Univariate and multivariate analyses were performed using SPSS 21. RESULTS: tHcy was significantly higher following SAH compared to matched controls [median (IQR): 25.7 (17.3-35.9) vs. 14.0 (9.8-17.6) µmol/l, p < 0.001]. It was significantly higher in younger patients. However, systemic disease, WFNS and Fisher grades did not have a significant impact on its levels. tHcy was significantly lower among patients who died [median (IQR): 16.0 (14.4-20.6) vs. 29.7 (21.8-40.2) µmol/l, p < 0.001] and those with unfavorable outcome (GOS 1-3) [median (IQR): 21.6 (14.5-28.2) vs. 30.3 (20.4-40.7) µmol/l, p = 0.004] compared to others, with a significant continuous positive correlation between tHcy and GOS (p = 0.002). The beneficial association of tHcy with outcome was homogeneous with no significant subgroup difference. Multivariate analysis using binary logistic regression adjusting for the effects of age, systemic disease, WFNS grade, Fisher grade, site of aneurysm, clipping or coiling revealed higher tHcy to have a significant independent association with both survival (p = 0.01) and favorable outcome (p = 0.04). CONCLUSIONS: Higher homocysteine levels following SAH appear to have a significant association with both survival and favorable neurological outcome, independent of other known prognostic factors, apparently exemplifying "reverse epidemiology paradox" in which a conventional risk factor seems to impart a survival advantage.

Suicide among Cancer Patients: Current Knowledge and Directions for Observational Research.

Cancer is a major public health concern associated with an increased risk of psychosocial distress and suicide. The reasons for this increased risk are still being characterized. The purpose of this study is to highlight existing observational studies on cancer-related suicides in the United States and identify gaps for future research. This work helps inform clinical and policy decision-making on suicide prevention interventions and ongoing research on the detection and quantification of suicide risk among cancer patients. We identified 73 peer-reviewed studies (2010-2022) that examined the intersection of cancer and suicide using searches of PubMed and Embase. Overall, the reviewed studies showed that cancer patients have an elevated risk of suicide when compared to the general population. In general, the risk was higher among White, male, and older cancer patients, as well as among patients living in rural areas and with lower socioeconomic status. Future studies should further investigate the psychosocial aspects of receiving a diagnosis of cancer on patients' mental health as well as the impact of new treatments and their availability on suicide risk and disparities among cancer patients to better inform policies.

A rare case of extensive cutaneous spider angioma in Zieve's syndrome: A case report and review of literature.

Chronic alcoholism is a global public health problem showing increasing trends throughout the world. Alcoholic liver disease is one of the most important causes of mortality worldwide. Cutaneous features are one of the most frequent manifestations of liver disease and can often be a presenting feature. Spider angioma is one of the cutaneous manifestations in liver diseases. More than six spider nevi are considered abnormal. Here we present a case of a gentleman with a history of chronic alcohol intake and diagnosed with Zieve's syndrome, who presented with extensive cutaneous spider angioma.

Contiguous triple spinal dysraphism associated with Chiari malformation Type II and hydrocephalus: an embryological conundrum between the unified theory of Pang and the unified theory of McLone.

Triple spinal dysraphism is extremely rare. There are published reports of multiple discrete neural tube defects with intervening normal segments that are explained by the multisite closure theory of primary neurulation, having an association with Chiari malformation Type II consistent with the unified theory of McLone. The authors report on a 1-year-old child with contiguous myelomeningocele and lipomyelomeningocele centered on Type I split cord malformation with Chiari malformation Type II and hydrocephalus. This composite anomaly is probably due to select abnormalities of the neurenteric canal during gastrulation, with a contiguous cascading impact on both dysjunction of the neural tube and closure of the neuropore, resulting in a small posterior fossa, probably bringing the unified theory of McLone closer to the unified theory of Pang.

Impact of Early Leukocytosis and Elevated High-Sensitivity C-Reactive Protein on Delayed Cerebral Ischemia and Neurologic Outcome After Subarachnoid Hemorrhage.

BACKGROUND: The role of inflammatory response in the pathophysiology of subarachnoid hemorrhage (SAH) is being increasingly recognized. This study analyzed the impact of cellular and biochemical markers of early inflammatory response to ictus on outcome after SAH. METHODS: Patients with SAH were prospectively studied for markers of early cellular, biochemical, and cytotoxic inflammatory response, including total leukocyte count (TLC), high-sensitivity C-reactive protein (hs-CRP), and lactate dehydrogenase. The relationship of these markers to delayed cerebral ischemia (DCI), new infarct, and Glasgow Outcome Scale (GOS) score at 3 months was studied. RESULTS: The study comprised 246 patients. Of patients, 94 who developed DCI had a significantly higher TLC [± SD] (11.2 × 10(3)/mm(3) [± 4.0] vs. 9.4 × 10(3)/mm(3) [± 2.9], P = 0.001) and 62 with new infarct had significantly higher TLC (11.0 × 10(3)/mm(3) [± 3.6] vs. 9.8 × 10(3)/mm(3) [± 3.4], P = 0.05). GOS score had a significant inverse relationship to TLC at admission. The mean TLC [± SD] was 12.7 × 10(3)/mm(3) [± 4.2], 11.7 × 10(3)/mm(3) [± 3.1], 10.2 × 10(3)/mm(3) [± 3.4], and 9.3 × 10(3)/mm(3) [± 2.8] among patients with GOS scores of 1, 3, 4, and 5 (P < 0.001). hs-CRP showed a trend of an inverse relationship to GOS score in univariate analysis. Lactate dehydrogenase had no relationship with any outcome parameter. In multivariate analysis, higher admission TLC had a significant association with DCI (P = 0.01) and poorer GOS score (P < 0.001), and higher hs-CRP had a significant association with poorer GOS score (P = 0.05). CONCLUSIONS: A leukocytosis response to ictus seems to have a significant independent association with both DCI and poor GOS score, and hs-CRP level had a significant independent association with poor GOS score, indicating preeminence of early cellular response in SAH pathophysiology.

Pupil sparing oculomotor nerve paresis after anterior communicating artery aneurysm rupture: False localizing sign or acute microvascular ischemia?

BACKGROUND: We describe a rare case of solitary pupil sparing oculomotor nerve paresis following rupture of anterior communicating artery (ACom) aneurysm and discuss the pertinent literature. Oculomotor nerve paresis caused by an ACom aneurysm rupture is an uncommon occurrence. Also, partial paresis affecting only fibers of superior division of oculomotor nerve is never reported before. CASE DESCRIPTION: A 55-year-old female, known hypertensive presented 5 days after an episode of acute severe headache, with Glasgow Coma Scale (GCS) of E2V2M5, left ptosis, normal pupils, paraparesis, and computed tomography (CT) scan showed diffuse subarachnoid hemorrhage (SAH). CT angiography revealed ACom aneurysm pointing antero-superiorly toward right. Patient later underwent endovascular coiling of the aneurysm. Subsequently there was partial improvement of ptosis in 3 weeks. CONCLUSION: Though pupil sparing oculomotor nerve paresis may not have much localizing value, it helps to understand acute microvascular spasm with potential therapeutic implications.

Serum lipid profile spectrum and delayed cerebral ischemia following subarachnoid hemorrhage: Is there a relation?

BACKGROUND: Serum lipid abnormalities are known to be important risk factors for vascular disorders. However, their role in delayed cerebral ischemia (DCI), the major cause of morbidity after subarachnoid hemorrhage (SAH) remains unclear. This study was an attempt to evaluate the spectrum of lipid profile changes in SAH compared to matched controls, and their relation with the occurrence of DCI. METHODS: Admission serum lipid profile levels were measured in patients of SAH and prospectively studied in relation to various factors and clinical development of DCI. RESULTS: Serum triglyceride (TG) levels were significantly lower among SAH patients compared to matched controls (mean [±standard deviation (SD)] mg/dL: 117.3 [±50.4] vs. 172.8 [±89.1], P = 0.002), probably because of energy consumption due to hypermetabolic response. Patients who developed DCI had significantly higher TG levels compared to those who did not develop DCI (mean [±SD] mg/dL: 142.1 [±56] vs. 111.9 [±54], P = 0.05). DCI was noted in 62% of patients with TG >150 mg/dL, compared to 22% among the rest (P = 0.01). Total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol and lipoprotein (a) neither showed a significant difference between SAH and controls and nor any significant association with DCI. Multivariate analysis using binary logistic regression adjusting for the effects of age, sex, systemic disease, World Federation of Neurosurgical Societies grade, Fisher grade, and clipping/coiling, revealed higher TG levels to have significant independent association with DCI (P = 0.01). CONCLUSIONS: Higher serum TG levels appear to be significantly associated with DCI while other lipid parameters did not show any significant association. This may be due to their association with remnant cholesterol or free fatty acid-induced lipid peroxidation.