L-2-hydroxyglutaric aciduria: a report of clinical, radiological, and genetic characteristics of two siblings from Egypt.

L-2-hydroxyglutaric aciduria (L-2-HGA) is a rare autosomal recessive disease characterized by elevated levels of hydroxyglutaric acid in the body fluids and brain with abnormal white matter. We present two siblings with psychomotor retardation and quadriparesis. Their brain imaging showed diffuse bilateral symmetrical involvement of the cerebral cortex, white matter, basal ganglia and cerebellum. The whole exome sequence studies revealed a homozygous likely pathogenic variant on chromosome 14q22.1 (NM_024884.2: c.178G > A; pGly60Arg) in the gene encoding for L-2-hydroxyglutarate dehydrogenase (L2HGDH) (OMIM #236792). Therefore, using the L2HGDH gene study is beneficial for L2HGA diagnosis.

TWEAK levels in psoriatic patients treated with narrowband ultraviolet B and methotrexate.

BACKGROUND: Psoriasis is an autoimmune disease which has an effect on the joints and skin. Tumor Necrosis Factor-Like Weak Inducer of Apoptosis (TWEAK) is a multi-functional cytokine which regulates the cellular processes and has been related to a variation of conditions. OBJECTIVES: To measure the level of serum TWEAK in psoriatic diseased persons and its relationship to the PASI score pre- and post-therapy with narrowband ultraviolet B phototherapy (NB-UVB) and methotrexate (MTX). METHODS: This randomized controlled trial was conducted on 40 patients and 20 healthy persons as controls. Patient Group was randomly subdivided to two groups. The 1st group consisted of 20 patients who received NB-UVB treatment. The 2nd group included 20 MTX-treated candidates. Blood samples were drawn from patients in order to detect serum TWEAK levels using ELISA. The research was registered on Clinical Trials Registration: RCT approval numbers: NCT0481191. RESULTS: The mean PASI score percent improvement after 12 weeks of treatment was higher in the MTX group (90%) than NB-UVB group (60%). The serum TWEAK level at baseline was 60.47 ± 12.6 pg/mL in NB-UVB group and 54.69 ± 21.7 pg/mL in MTX group which reduced to 24.93 ± 17.6 pg/mL and 32.13 ± 23.6 pg/mL, respectively (p < 0.001), after 12 weeks of treatment. There was a positive correlation between the serum levels of TWEAK and severity of PASI score (r = 0.399, p = 0.014). CONCLUSION: TWEAK grades in psoriasis are substantially higher than in controls. TWEAK levels were dramatically reduced during NB-UVB and MTX treatment. TWEAK may have a potential sign for psoriasis diagnosis and prognosis.

Evaluation of the Effect of Oral Isotretinoin on the Level of Serum YKL40 in Acne Vulgaris Patients: A Cross-Sectional Case-Control.

Background: In the entire world, acne vulgaris (AV) is the most prevalent skin condition. Approximately 9.4% of people worldwide have acne vulgaris. This study compared the blood levels of chitinase 3-like protein 1 (YKL-40) in acne vulgaris patients before and after oral isotretinoin therapy. Patients and Methods: The design of the study was cross-sectional case-control. Forty patients with moderate to severe acne vulgaris and twenty healthy participants participated in this study. Using the Global Acne Grading System (GAGS) score, patients with acne vulgaris were evaluated both before and after concluding their treatment. Using the enzyme-linked immunosorbent assay (ELISA), the serum levels of YKL-40 were measured before and after oral isotretinoin therapy in healthy controls and acne patients. Results: Patients with acne vulgaris had considerably greater serum levels of YKL-40 than healthy control subjects (p 0.001) did. After three months of oral isotretinoin medication, the GAGS score and blood levels of YKL-40 in acne vulgaris patients both significantly decreased. Conclusion: The conclusion of this study was that reducing the blood levels of YKL-40 and the GAGS score in patients with acne vulgaris who took oral isotretinoin for three months was a crucial strategy.

Incidence of adrenal gland tumor as a second primary malignancy: SEER-based study.

PURPOSE: Advances in cancer treatment achieved during the past decades have resulted in increased survival of most pediatric and adult patients that suffered from different adrenal tumor types. This article reviews the incidence and survival of adrenal gland tumors as second primary tumors, according to data from the Surveillance, Epidemiology, and End Results (SEER) database. METHOD: The SEER 13 Registries Database from 1992 to 2013 was used. All primary cancer sites were selected using the Multiple Primary Standardized Incidence Ratios (MP-SIR) session. RESULTS: Data for a total of 2,887,468 persons with cancer were reviewed. 117 of whom had suffered second primary adrenal tumors. The overall standardized incidence ratio (SIR) of adrenal gland tumor as a second primary was 1.49. A high incidence ratio of the event was also detected in specific primary tumor sites: hypopharynx (Observed/Expected(O/E) = 44.59); other endocrine tissue (including the thymus) (O/E=38.27); chronic myeloid leukemia (O/E=11.15); small intestine (O/E=8.86); liver (O/E=8.74); stomach (O/E=4.95); nodal NHL (O/E=3.79); kidney and renal pelvis (O/E=3.19); and breast (O/E=1.78). CONCLUSION: The underlying shared mechanisms should be investigated between adrenal tumors and hypopharyngeal, endocrine and other tumors. Racial disparity is an important challenge in cancer treatment at US and should be taken into consideration in the design of cancer prevention programs. This could be achieved through follow-up programs at specialized national cancer networks, especially for rare tumors like adrenal gland.

Risk of second malignancies among survivors of pediatric thyroid cancer.

BACKGROUND: Thyroid carcinoma is a very rare tumor in the pediatric age group, accounting for only 1.5-3% of childhood carcinomas in the United States and Europe. We aimed to identify the risk of a second malignancy among pediatric thyroid cancer survivors. METHODS: The cohort analysis consisted of pediatric cancer patients aged less than 20 years, diagnosed with a primary thyroid cancer, identified by site code ICD-0-3: C739, and reported to the SEER 9 database between 1973 and 2013. They were followed up until December 31, 2013; the end of the study period, or up to death if earlier. RESULTS: Out of 1769 patients diagnosed primarily with thyroid carcinoma, 42 patients had a total of 45 incidences of subsequent malignancies. The mean age of patients at the initial diagnosis of thyroid cancer was 16 years. Females (90.5%) had a significantly higher incidence of second malignancies (SM) than males (9.5%). The overall Standardized Incidence Ratio (SIR) of SM in the study patients was higher than expected (SIR = 1.48). Some specific sites showed significantly higher incidences: the salivary glands (SIR = 33.95), the gum and other parts of the mouth [excluding the lips, tongue, salivary glands and floor of the mouth] (SIR = 24.53)*** and the kidneys (SIR = 5.72). The overall risk of SM in patients who had received radioactive iodine was higher than expected (SIR = 4.41). The cumulative incidence of SM after treatment of thyroid cancer in children increases steadily over 40 years (11.92%). CONCLUSIONS: Race, gender, histological subtypes, and radioactive iodine are potentially significant prognostic factors for the development of SM among pediatric thyroid cancer survivors. Identification of underlying mechanisms that raise the risk of SM is important for both treatment and follow-up strategies.

Mesenchymal stem cell therapy: A promising cell-based therapy for treatment of myocardial infarction.

For decades, mesenchymal stem (MSCs) cells have been used for cardiovascular diseases as regenerative therapy. This review is an attempt to summarize the types of MSCs involved in myocardial infarction (MI) therapy, as well as its possible mechanisms effects, especially the paracrine one in MI focusing on the studies (human and animal) conducted within the last 10 years. Recently, reports showed that MSC therapy could have infarct-limiting effects after MI in both experimental and clinical trials. In this context, various types of MSCs can help cardiac regeneration by either revitalizing the cardiac stem cells or revascularizing the arteries and veins of the heart. Furthermore, MSCs could produce paracrine growth factors that increase the survival of nearby cardiomyocytes, as well as increase angiogenesis through recruitment of stem cell from bone marrow or inducing vessel growth from existing capillaries. Recent research suggests that the paracrine effects of MSCs could be mediated by extracellular vesicles including exosomes. Exosomal microRNAs (miRNAs) released by MSCs are promising therapeutic hotspot target for MI. This could be attributed to the role of miRNA in cardiac biology, including cardiac regeneration, stem cell differentiation, apoptosis, neovascularization, cardiac contractility and cardiac remodeling. Furthermore, gene-modified MSCs could be a recent promising therapy for MI to enhance the paracrine effects of MSCs, including better homing and effective cell targeted tissue regeneration. Although MSC therapy has achieved considerable attention and progress, there are critical challenges that remains to be overcome to achieve the most effective successful cell-based therapy in MI.