Streptococcus salivarius peritonitis in an infant receiving chronic peritoneal dialysis.

Peritonitis is the most common infectious complication of chronic peritoneal dialysis in children and the most common reason for hospitalization. Although the most common organisms responsible for peritonitis are gram-positive bacteria, peritonitis has not previously been reported secondary to Streptococcus salivarius, one of the 26 species in the Streptococcus viridians group. We describe a 4-month-old male who developed S. salivarius peritonitis while receiving automated peritoneal dialysis and who was successfully treated with a 14-day course of intraperitoneal vancomycin. Subtyping episodes of S. viridans-related infection is essential for the identification of S. salivarius.

Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C>T/p.Arg118Cys: A family study.

BACKGROUND: Fabry disease (FD) has an extensive phenotypic expression associated with GLA gene variants. The GLA gene variant c.352C>T/p.Arg118Cys was considered with uncertain pathogenicity because of the finding of high residual alpha-galactosidase A (α-Gal A) enzyme activity, the absence of Mendelian segregation with an FD phenotype with many individuals remaining asymptomatic at old ages and the lack of globotriaosylceramide (Gb3) deposits in tissues. Gb3 deposits are found in kidneys before the progression to overt microalbuminuria and decreased glomerular filtration. METHODS: We describe a family with c.352C>T/p.Arg118Cys variant and pathognomonic signs of FD renal damage in masculine children. RESULTS: The proband died of end-stage renal failure and we analyzed GLA gene in his offspring and found the variant in all daughters and five of seven grandchildren. In patients who we measure plasma and urinary Gb3, α-Gal A enzyme activity, and plasma globotriaosylsphingosine (Lyso-Gb3), these were normal or almost normal. A kidney biopsy was performed in two boys and one girl with normal renal function and characteristic signs of FD as enlarged and vacuolated epithelial cells, myelin figures, myelin-like figures, lamellated structures in podocytes and endothelial cells, were found in boys. These boys received agalsidase beta 1 mg/kg IV infusion every other week to prevent further renal damage. CONCLUSION: This is the first report that shows a link between FD renal Gb3 deposits and c.352C>T/p.Arg118Cys variant, supporting pathogenicity of a variant considered until now with uncertain pathogenicity.

Improvement of life quality measured by Lansky Score after enzymatic replacement therapy in children with Gaucher disease type 1.

BACKGROUND: Gaucher disease type 1 (GD1, OMIM# 230800), is a condition with high impact in patient's quality of life (QoL). We report the improvement in QoL of children with GD1 measured by Lansky play-performance scale (LS) after enzymatic replacement therapy (ERT) and to describe our experience in the treatment of children with GD1. METHODS: Five children with diagnosis of GD1 received imiglucerase 60 mg/kg every two weeks. LS, hepatomegaly, splenomegaly, hemoglobin, platelets, and growth rate were measured every 6 months after beginning ERT for 30 months. RESULTS: After ERT, LS increased significantly from 28 ± 16.48 points before ERT to 70 ± 10 (P = 0.0046) and 95 ± 10 (P = 0.0022) points after 6 and 30 months of ERT, respectively; hemoglobin and platelets changed significantly from 9.28 ± 0.61 to 12.40 ± 0.85 (P = 0.0198) and from 71.50 ± 14.89 to 205.00 ± 65.34 (P = 0.0428) after 30 months of ERT, respectively. All patients demonstrated decreased hepatic and splenic size with mean reductions of 66% and 80% at 30 months of treatment and the USG longitudinal axis was reduced in both liver and spleen after ERT. CONCLUSION: The use of ERT with imiglucerase 60 mg/kg every two weeks has substantial benefits and significantly improves QoL, assessed with Lansky Score, of the five children with GD1 studied.

Celiac trunk and branches dissection due to energy drink consumption and heavy resistance exercise: case report and review of literature.

Higher doses and consumption of energy drinks leads to cardiovascular effects and potential consequences. Principal components found in energy drinks such as caffeine, guarana and taurine has been related to dilatation, aneurysm formation, dissection and ruptures. There is no evidence showing an integration of these components and its effects in endothelium and aortic walls due to higher levels of pressure during exercises. We report a case of a 44 years male with celiac trunk and branches dissection due to long-term consumption of energy drinks and intense exercise routine. Our proposition relates cell and vessel walls alterations including elasticity in endothelial wall due to higher blood pressure, resistance by intense exercise routine and long-term consumption of energy drinks.

Cystic adnexal mass in a 16-year-old female: Ovarian pathology or complication of a Müllerian anomaly?

Patient: Female, 16 Final Diagnosis: Pelvic mass Symptoms: None Medication: None Clinical Procedure: CT • MRI Specialty: Diagnostic radiology • pediatrics. OBJECTIVE: Unusual presentation of unknown etiology, Rare disease, Mistake in diagnosis. BACKGROUND: Müllerian anomalies encompass a wide variety of malformations in the female genital tract, usually associated with renal and anorectal malformations. Of these anomalies, approximately 11% are uterus didelphys, which occurs when midline fusion of the müllerian ducts is arrested to a variable extent. CASE REPORT: We report the case of a 16-year-old female with uterine didelphys, jejunal malrotation, hematometra, hematosalpinx, and bilateral subcentimeter homogenous circular cystic-like renal lesions, who initially presented with left lower quadrant abdominal pain, non-bloody vomiting, and a history of irregular menstrual periods. Initial CT was confusing for an adnexal cystic mass, but further imaging disclosed the above müllerian anomalies. CONCLUSIONS: Müllerian anomalies may mimic other, more common, adnexal lesions; thus, adequate evaluation of suspicious cystic adnexal masses with multiple and advanced imaging modalities such as MRI is essential for adequate diagnosis and management.

Acute neuronal injury and blood genomic profiles in a nonhuman primate model for ischemic stroke.

The goal of this study was to characterize acute neuronal injury in a novel nonhuman primate (NHP) ischemic stroke model by using multiple outcome measures. Silk sutures were inserted into the M1 segment of the middle cerebral artery of rhesus macaques to achieve permanent occlusion of the vessel. The sutures were introduced via the femoral artery by using endovascular microcatheterization techniques. Within hours after middle cerebral artery occlusion (MCAO), infarction was detectable by using diffusion-weighted MRI imaging. The infarcts expanded by 24 h after MCAO and then were detectable on T2-weighted images. The infarcts seen by MRI were consistent with neuronal injury demonstrated histologically. Neurobehavioral function after MCAO was determined by using 2 neurologic testing scales. Neurologic assessments indicated that impairment after ischemia was limited to motor function in the contralateral arm; other neurologic and behavioral parameters were largely unaffected. We also used microarrays to examine gene expression profiles in peripheral blood mononuclear cells after MCAO-induced ischemia. Several genes were altered in a time-dependent manner after MCAO, suggesting that this ischemia model may be suitable for identifying blood biomarkers associated with the presence and severity of ischemia. This NHP stroke model likely will facilitate the elucidation of mechanisms associated with acute neuronal injury after ischemia. In addition, the ability to identify candidate blood biomarkers in NHP after ischemia may prompt the development of new strategies for the diagnosis and treatment of ischemic stroke in humans.

Fibrotendinous band causing neurogenic Thoracic Outlet Syndrome in adolescent with bilateral cervical ribs.

Thoracic Outlet Syndrome (TOS) describes a variety of symptoms caused by the compression of the neurovascular structures in the cervicoaxillary region as they leave the thorax toward the upper limbs. Causes of TOS are vascular and neurogenic, with neurogenic symptoms being the most common presentation (95% of patients). Symptoms related to neurogenic TOS include intrinsic hand muscle and thenar region atrophy and weakness, as well as medial hand and forearm numbness, which are all suggestive of lower trunk involvement. This condition is very rare in the pediatric population. We are reporting a case of true neurogenic TOS caused by a fibrotendinous band in an adolescent with bilateral cervical ribs who was submitted for surgical treatment at the right side.

Multidetector CT evaluation of calcaneal fractures.

As the largest tarsal bone and the most inferior bone in the body, the calcaneus is responsible for supporting the axial load from the weight of the body. It is most commonly fractured after a fall from a height in which axial loads exceed its support capacity. Calcaneal fractures account for 60% of all tarsal fractures. Conventional radiography is commonly used for initial evaluation of calcaneal injury but has the typical disadvantages of two-dimensional imaging. Modern assessment of calcaneal fractures relies heavily on multidetector computed tomography (CT), which allows better visualization and characterization of fracture lines and fragment displacement. Calcaneal fractures observed at CT have been divided into intra- and extraarticular fractures on the basis of subtalar joint involvement. The Sanders classification system for intraarticular fractures is the most commonly used system because it correlates with clinical outcomes and involves less interobserver variability. The classification of extraarticular fractures has been less controversial and makes use of anatomic landmarks on the calcaneus to divide the bone into anterior, middle, and posterior areas. Soft-tissue involvement is an important aspect of calcaneal fracture assessment because it has been linked with poor functional outcomes. Familiarity with the normal anatomy of the calcaneus, the classification of calcaneal fractures, and the various complications of these fractures is essential for treatment assessment, especially if surgical intervention is required.

HIV prevalence and associated risk behaviors in New York City's house ball community.

OBJECTIVES: We measured HIV seroprevalence and associated risk factors among persons in New York City's house ball community. METHODS: In 2004 we conducted a venue-based risk-behavior survey and HIV testing in the house ball community. RESULTS: Of the 504 study participants, 67% were male, 14% female, and 18% transgender. Mean age was 24 years (range=15-52 years); 55% were Black, and 40% were Latino. More than 85% of participants had previously been tested for HIV, although only 60% had been tested in the previous 12 months. Of the 84 (17%) persons who tested positive for HIV in our study, 61 (73%) were unaware of their HIV status. A logistic regression analysis on data from 371 participants who had had a male sexual partner in the previous 12 months showed that HIV-infected participants were more likely than were HIV-negative participants to be Black, to be older than 29 years, and not to have been tested for HIV in the previous 12 months. CONCLUSIONS: Culturally specific community-level prevention efforts are warranted to reduce risk behaviors and increase the frequency of HIV testing in New York City's house ball community.

Reactive thrombocytosis: an early manifestation of Takayasu arteritis.

A woman with Takayasu arteritis is reported who presented with constitutional symptoms and persistent thrombocytosis documented since 3 years before the diagnosis. Disease-specific symptoms such as arm claudication, transient loss of vision, and self-remitting eye ptosis present at the time were apparently missed, because she is a non-English-speaking Hispanic woman whose history was obtained through an interpreter. Extensive workup done at the time failed to reach a definite etiology. A computed tomography scan of the chest done because of midthoracic back pain and an elevated erythrocyte sedimentation rate showed circumferential wall thickening and mild surrounding edema throughout the thoracic and abdominal aorta and both carotid arteries consistent with Takayasu arteritis. Prednisone at a dosage of 1 mg/kg twice a day decreased the platelet count within 45 days of its initiation. Takayasu arteritis should be considered in the differential diagnosis of unexplained thrombocytosis, particularly in young women.

Helical computed tomographic angiography for the diagnosis of traumatic arterial injuries of the extremities.

BACKGROUND: The radiologic study of choice for evaluation of traumatic arterial injuries is conventional arteriography, but it poses the risks of an invasive procedure. Computed tomographic arteriography (CTA) is emerging as a new way to study arterial anatomy, with the additional advantages of being noninvasive and a technique that allows evaluation of different body areas simultaneously. Our experience using CTA for evaluation of traumatic arterial injuries is provided in this study. METHODS: A retrospective review over a 22-month period of all adult patients undergoing CTA for evaluation of traumatic injuries to the extremities was performed. RESULTS: A total of 97 CTA studies were performed in the 95 patients. CTA adequately demonstrated the nature and location of all the arterial injuries when compared with conventional arteriography or surgical exploration. Abnormal CTA results included 21 arterial occlusions, 2 intimal flap defects, and 2 pseudoaneurysms. Nine of these 25 injuries were confirmed by surgery only, 10 by surgery and arteriography, and 6 by arteriography only. Normal CTA results were confirmed with arteriography in 10 cases. No missed injuries were encountered in patients with normal CTA results. CONCLUSION: CTA is a reliable technique for the detection and characterization of traumatic extremity arterial injuries. These results suggest CTA may be an alternative to conventional arteriography for the diagnosis of traumatic arterial injuries.