May Gender or Ethnicity Affect Delta Over Baseline Values Obtained by 13-C Urea Breath Test?

INTRODUCTION: 13C-urea breath test (UBT) is a non-invasive test for detecting active H. pylori infection. Previous studies showed a correlation of delta over baseline (DOB) values with bacterial load, mucosal inflammation and successful eradication. Gender has been shown to affect DOB in children. Aim of our study was to verify whether gender or ethnicity affects DOB in adults. PATIENTS AND METHODS: We retrospectively analyzed data of 2922 patients (1024M/1898F mean age 47±15 years) that underwent UBT in our outpatient unit, from October 2015 to October 2016. Patients were divided based on gender and ethnicity; mean DOB values were then compared. RESULTS: 686 pts (23.4%, 258M/428F, mean age 45±17 years) of 2922 pts showed a positive UBT. Prevalence of H. pylori infection was significantly higher in males compared to females (29% vs 22%; p=0,03). Females showed a significant higher mean DOB (34±25 vs 27,6±22; p=0,008). A total of 2922 UBT were performed during the study period (F:1898, 65%; M: 1024 35%). The prevalence of H. pylori infection is 32% in those from Eastern Countries, 28% in those from South America and 40% in both those coming from Africa and Asia. We found significantly lower DOB values in Italians compared to non-Italian (mean DOB 36±27 vs 69±32; p<0.0001). CONCLUSION: Our study showed that in our geographic area, prevalence H. pylori infection is higher in males. Moreover, it demonstrates for the first time in our geographic area that adult females show a significantly higher DOB compared to males (p=0,008). Whether this effect may be due to hormonal differences, able to influence gastric emptying, bacterial load, or even the production of urease by H. pylori, merits further investigation.

Low-Dose Cyclosporine A in the Treatment of Severe Atopic Dermatitis Complicated by Chronic Hepatitis C Virus Infection.

Atopic dermatitis (AD) is the most frequent chronic inflammatory skin disorder in children and is usually accompanied by genetic and environmental factors. Effective management and treatment of AD is challenging and often requires systemic immunosuppressive therapy when refractory to topical treatments. We report a rare association between chronic hepatitis C virus (HCV) and severe AD, management of which required systemic cyclosporine because of its favorable effects on inflammatory and viral-related clinical outcomes.

History of the infantile hepatic hemangioma: From imaging to generating a differential diagnosis.

We aim to provide an up-to-date summary of infantile hepatic hemangioma (IHH) and its misnomers and to dialectically present the differential diagnosis of these rare entities of the liver. Eligible peer-reviewed articles on hepatic infantile hemangiomas, published between 2000 and 2015, were reviewed for this study. IHH is the most common hepatic vascular tumor in children. Once a liver mass is identified in an infant, the differential diagnosis ranges from vascular malformations to benign and malignant tumors including mesenchymal hamartoma, hepatoblastoma, metastatic neuroblastoma, so careful physical examination, imaging studies, and, if indicated, tumor markers and biopsy, are of pivotal importance to ascertain the correct diagnosis. Despite the benign nature of IHHs, some of these lesions may demand medical and/or surgical intervention, especially for multiple and diffuse IHH. Complications can include hepatomegaly, hypothyroidism and cardiac failure. Therefore, a close follow-up is required until complete involution of the lesions. We propose an algorithm to guide the physicians towards the proper management of hepatic lesions.

Vascular Notch proteins and Notch signaling in the peri-implantation mouse uterus.

BACKGROUND: Angiogenesis is essential for uterine decidualization, the progesterone-mediated transformation of the uterus allowing embryo implantation and initiation of pregnancy. In the current study, we define the vasculature, expression of Notch proteins and Notch ligands, and Notch activity in both endothelial cells and vascular-associated mural cells of blood vessels in the pre-implantation endometrium and post-implantation decidua of the mouse uterus. METHODS: We used immunofluorescence to determine the expression of Notch in endothelial cells and mural cells by co-staining for the endothelial cell marker, CD31, the pan-mural cell marker, platelet-derived growth factor receptor beta (PDGFR-ß), the pericyte markers, neural/glial antigen 2 (NG2) and desmin, or the smooth muscle cell marker, alpha smooth muscle actin (SMA). A fluorescein isothiocyanate-labeled dextran tracer, was used to identify functional peri-implantation vasculature. CBF:H2B-Venus Notch reporter transgenic mice were used to determine Notch activity. RESULTS: Notch signaling is observed in endothelial cells and pericytes in the peri-implantation uterus. Prior to implantation, Notch1, Notch2 and Notch4 and Notch ligand, Delta-like 4 (Dll4) are expressed in capillary endothelial cells, while Notch3 is expressed in the pericytes. Jagged1 is expressed in both capillary endothelial cells and pericytes. After implantation, Notch1, Notch4 and Dll4 are expressed in endothelial cells of newly formed decidual capillaries. Jagged1 is expressed in endothelial cells of spiral arteries and a subset of decidual pericytes. Notch proteins are not expressed in lymphatic vessels or macrophages in the peri-implantation uterus. CONCLUSIONS: We show Notch activity and distinct expression patterns for Notch proteins and ligands, suggesting unique roles for Notch1, Notch4, Dll4, and Jag1 during decidual angiogenesis and early placentation. These data set the stage for loss-of-function and gain-of-function studies that will determine the cell-type specific requirements for Notch proteins in decidual angiogenesis and placentation.

A Reliable Method to Measure Lip Height Using Photogrammetry in Unilateral Cleft Lip Patients.

There is still no reliable tool to determine the outcome of the repaired unilateral cleft lip (UCL). The aim of this study was therefore to develop an accurate, reliable tool to measure vertical lip height from photographs. The authors measured the vertical height of the cutaneous and vermilion parts of the lip in 72 anterior-posterior view photographs of 17 patients with repairs to a UCL. Points on the lip's white roll and vermillion were marked on both the cleft and the noncleft sides on each image. Two new concepts were tested. First, photographs were standardized using the horizontal (medial to lateral) eye fissure width (EFW) for calibration. Second, the authors tested the interpupillary line (IPL) and the alar base line (ABL) for their reliability as horizontal lines of reference. Measurements were taken by 2 independent researchers, at 2 different time points each. Overall 2304 data points were obtained and analyzed. Results showed that the method was very effective in measuring the height of the lip on the cleft side with the noncleft side. When using the IPL, inter- and intra-rater reliability was 0.99 to 1.0, with the ABL it varied from 0.91 to 0.99 with one exception at 0.84. The IPL was easier to define because in some subjects the overhanging nasal tip obscured the alar base and gave more consistent measurements possibly because the reconstructed alar base was sometimes indistinct. However, measurements from the IPL can only give the percentage difference between the left and right sides of the lip, whereas those from the ABL can also give exact measurements. Patient examples were given that show how the measurements correlate with clinical assessment. The authors propose this method of photogrammetry with the innovative use of the IPL as a reliable horizontal plane and use of the EFW for calibration as a useful and reliable tool to assess the outcome of UCL repair.

Propranolol for infantile haemangiomas: single centre experience of 250 cases and proposed therapeutic protocol.

OBJECTIVE: To assess the safety and efficacy of systemic propranolol for the treatment of complicated infantile haemangiomas. DESIGN: Retrospective review of case notes of paediatric patients treated with propranolol for complicated infantile haemangiomas. SETTING: Tertiary care children's hospital. PATIENTS: All paediatric patients with complicated infantile haemangiomas who commenced treatment with propranolol from July 2008 to December 2011 and have completed treatment for at least 3 months. RESULTS: 250 patients were treated with propranolol; 34.4% were premature and 5.6% postmature. Indications for propranolol included: vision compromise (42.0%), bleeding and/or ulceration (30.4%) airway obstruction (8.8%), feeding difficulty (8.4%), risk of permanent disfigurement (4.4%) and other (6%) (nasal obstruction, auditory canal obstruction, large haemangioma, compression of neck structure and spinal cord). Median age at beginning of treatment was 4.5 months. Median age at end of treatment was 16.7 months. Median length of therapy was 11.8 months. Adverse effects (such as wheezing, worsening of ulceration, sleep disturbance, diarrhoea) occurred in 38 patients (15.2%), leading to modifications in management in 26 patients (10.4%). 240 patients (96%) had good to excellent response to treatment. 20 patients (8%) experienced regrowth of the haemangioma on cessation of propranolol and six patients (2.4%) required propranolol to be restarted. CONCLUSIONS: In appropriately selected patients, propranolol is a safe and effective treatment for infantile haemangiomas.

Challenging diagnosis of peripillous sheaths.

Peripillous sheaths, or hair casts, are asymptomatic, white, cylindrical concretions that encircle the hair without adhering to it. They are infrequently documented in the literature, are often misdiagnosed, and generate avoidable apprehension and expense for parents and caregivers. Dermoscopy is the standard for a rapid, noninvasive, cost-effective diagnosis. We describe a case of peripillous sheaths presenting in a boy.

A possible role for CD8+ T lymphocytes in the cell-mediated pathogenesis of pemphigus vulgaris.

Pemphigus vulgaris (PV) is an autoimmune blistering disease whose pathogenesis involves both humoral and cell-mediated immune response. Though the pathogenetic role of autoantibodies directed against desmoglein 3 is certain, a number of other factors have been suggested to determine acantholysis in PV. In this study we examined the possible role of CD8+ T cells in the development of acantholysis by a passive transfer of PV autoantibodies using CD8 deficient mice, and we also studied the inflammatory infiltrate of PV skin lesions by immunohistochemical staining. The results of the immunohistochemical staining to study the expression of CD3, CD4, and CD8 in PV skin lesions showed that CD4+ are more expressed than CD8+ in the inflammatory infiltrate of PV lesions, confirming the data of the previous literature. The passive transfer study showed a lower incidence of pemphigus in the group of CD8 deficient mice compared to the control one of wild-type mice. These results suggest that CD8+ T cells may play a role in the pathogenesis of PV, perhaps through the Fas/FasL pathway.

Functional outcome after the Hoffer procedure.

BACKGROUND: Children with obstetrical brachial plexus injury often develop an internal rotation and adduction contracture about the shoulder as a secondary deformity, resulting in an inability to externally rotate and abduct the shoulder. The Hoffer procedure is evaluated for its potential benefit in improving shoulder abduction and external rotation and its impact on activities of daily living. METHODS: This is a retrospective review of patients treated in brachial plexus injury clinic who underwent tendon transfer procedures about the shoulder. Preoperative and postoperative active movement and active range of motion were measured and recorded using the Mallet scale and the Active Movement Scale. RESULTS: Twenty patients were included in the study. Average age at time of surgery was 6.35 years. Thirteen patients had primary brachial plexus reconstructive surgery and four patients had concomitant wrist extension tendon transfer procedures. All patients had full passive range of motion preoperatively. The average follow-up period was 25.45 months. Average differences in pre-Hoffer and post-Hoffer Mallet scale scores are as follows: active abduction, 1.20; external rotation, 1.35; hand-to-neck, 1.25; hand-to-back, 0.75; hand-to-mouth, 0.65; and aggregate score, 5.20 (p<0.001 for all). Average differences in relevant pre-Hoffer and post-Hoffer Active Movement Scale scores are as follows: shoulder abduction, 2.10; shoulder external rotation, 4.25; and shoulder internal rotation, -0.80. All patients maintained full range of motion passively; thus, no functional loss was experienced. These results showed very high statistical significance (p<0.001 for all) and clinical significance. Younger patients (≤6 years) and those with better preoperative shoulder flexion and shoulder internal rotation yielded better postoperative results. CONCLUSIONS: The Hoffer procedure provides clinically and statistically significant improvement in external rotation and abduction while preserving functional internal rotation range in the child with obstetrical brachial plexus palsy and secondary shoulder deformity. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Acquired epidermodysplasia verruciformis: a comprehensive review and a proposal for treatment.

BACKGROUND: Epidermodysplasia verruciformis (EV) is a rare genodermatosis characterized by immunologic abnormalities, disseminated human papilloma virus infection, and early development of skin cancers. Acquired forms have been rarely reported and usually occur with immunosuppression. The therapeutic management of the acquired forms is not standardized, and several therapies have been tried, with variable outcomes. OBJECTIVES: To provide updated clinical and experimental information on the treatment of acquired EV. METHODS: A Medline literature search was performed for relevant Medical Subject Heading terms, reviewing publications on strategies for management of acquired EV. We also report a case successfully treated using a combination of photodynamic therapy and oral retinoids. CONCLUSION: Data from the literature show that a standardized approach to this condition is lacking; the combination treatment chosen in our case may be proposed because it led to an excellent clinical outcome and a long-lasting remission.

Vascular endothelial growth factor (VEGF-a) in Fabry disease: association with cutaneous and systemic manifestations with vascular involvement.

INTRODUCTION: Fabry disease is an X-linked inherited metabolic disorder characterized by the deficiency of lysosomal α-galactosidase A enzyme. This leads to the accumulation, into lysosomes through the body, of glycosphingolipids, mainly Gb3. Skin involvement and progressive multi-organ failure are usually observed. Endothelium is the preferential target of the Gb3 storage that determines endothelial dysfunction and vasculopathy leading to the clinical manifestations of the disease. The serum levels of Vascular Endothelial Growth Factor-A (VEGF-A), a specific endothelial cell mitogen, were analyzed in Fabry patients to explore a possible association to the clinical manifestations with vascular involvement. METHODS: Thirty-five patients with a biochemical and genetic diagnosis of Fabry disease, along with an age-gender-matched healthy control group, were enrolled. Serum samples were collected and analyzed by ELISA. The genetic mutations, the specific organ dysfunction, and the cardiovascular risk factors such as dyslipidaemia, diabetes, smoking habits and hypertension were evaluated in Fabry patients. RESULTS: The mean serum level of VEGF-A in Fabry patients group was significantly higher than in the control group (P=0.006). A statistical significant association, between VEGF-A levels and the skin manifestation including angiokeratomas, sweating abnormalities and Fabry Facies was found. An association was also found between high VEGF-A and specific GLA mutations, the male gender, the renal and neurological manifestations, the presence of eye vessels tortuosity, smoking habit and hypertension. CONCLUSIONS: We detected increased VEGF-A levels in patients with Fabry disease compared to the controls, and we hypothesized that this could be a response to the vascular damage characterising this lysosomal disorder. However, further studies are necessary to clarify the role of VEGF-A in Fabry.

Reversed palmaris longus muscle: Anatomical variant - case report and literature review.

The palmaris longus, a slender fusiform muscle, is especially prone to exhibiting anatomical variance relative to other muscles in the upper extremity. The most frequent anatomical variation is the completely absent palmaris longus, followed by the reversed, duplicated, bifid or hypertrophied palmaris longus muscles. The reversed palmaris longus muscle represents a structure that is tendinous proximally and muscular distally (opposite of the normal palmaris longus). The present report describes a case of reversed palmaris longus muscle, followed by a literature review to illustrate the wide spectrum of anatomical variations in the palmaris longus muscle and their clinical and surgical relevance.

Le grand palmaire, un muscle fusiforme mince, est particulièrement enclin aux variations anatomiques par rapport aux autres muscles des membres supérieurs. La variation anatomique la plus fréquente est l'absence de grand palmaire, suivie de son inversion, de son dédoublement, de sa bifidité et de son hypertrophie. L'inversion du grand palmaire est une structure tendineuse sur le plan proximal et musculaire sur le plan distal (à l'opposé du grand palmaire normal). Le présent rapport décrit un cas d'inversion du grand palmaire, suivi d'une analyse bibliographique pour démontrer le large spectre de variations anatomiques du grand palmaire et leur pertinence clinique et chirurgicale.

Psoriatic Pseudobalanitis Circinata as a Post-Viral Koebner Phenomenon.

In the absence of any other lesions on the body, the diagnosis of localized genital psoriasis can be difficult, requiring further examinations including a biopsy. We report a case of psoriatic pseudobalanitis circinata triggered by a herpes virus infection, and we discuss the Koebner phenomenon and the therapeutic management of psoriasis of the genital area.

Urinary tract infection in the newborn and the infant: state of the art.

Urinary tract infection is one of the most common causes of infection in newborns. Obtaining a urinary tract infections (UTIs) diagnosis just on the basis of the clinical findings is frequently difficult, however, being the pediatrician's goal to reduce the risk of renal scarring, a prompt diagnosis and treatment is of extreme importance. The key instrument for the diagnosis of UTIs is represented today by urine culture. However, in reality, the caregivers and investigators are increasingly demanding fast and cheap methods for a rapid and effective diagnosis.