Hereditary neuropathy with liability to pressure palsies in a Turkish patient (HNPP): a rare cause of entrapment neuropathies in young adults

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant nerve disease usually caused by 1,5 Mb deletion on chromosome 17p11.2.2-p12, the region where the PMP-22 gene is located. The patients with HNPP usually have relapsing and remitting entrapment neuropathies due to compression. We present a 14-year-old male who had acute onset, right-sided ulnar nerve entrapment at the elbow. He had electrophysiological findings of bilateral ulnar nerve entrapments (more severe at the right side) at the elbow and bilateral median nerve entrapment at the wrist. Genetic tests of the patient demonstrated deletions in the 17p11.2 region. The patient underwent decompressive surgery for ulnar nerve entrapment at the elbow and completely recovered two months after the event. Although HNPP is extremely rare, it should be taken into consideration in young adults with entrapment neuropathies.     

<Emphasis Type="Italic">Saccharomyces boulardii</Emphasis> prevents oral-poliovirus vaccine-induced IgA nephropathy in mice

Immunoglobulin A nephropathy (IgAN) is associated with mucosal IgA defect. Probiotics regulate specific and innate immunity. We evaluated the effect of Saccharomyces boulardii on experimental IgAN in mice. Four groups of BALB/c mice (eight for each) were formed. Group 1 was immunized by oral poliovirus vaccine (OPV) at 0, 14, and 28 days. Group 2 was also given S. boulardii in addition to OPV. Group 3 was given only S. boulardii, whereas group 4 received no treatment. At week 6, after urine and serum samples were obtained for urinalysis and serum creatinine and IgA measurements, all animals were sacrificed to get their kidneys for histopathological evaluation. Urinalysis and serum creatinine levels were normal in all groups. Serum IgA level was increased only in group 1. Whereas group 1 had mesangial proliferation, histology was normal in the other groups. Predominant IgA deposition was universal in group 1, whereas it was either not present or minimal in other groups. Three mice in group 1 also had C3 deposition, which was absent in other groups. Electron microscopy revealed mesangial proliferation, matrix expansion, focal glomerular basement membrane thickening and electron-dense deposits in group 1 only, whereas the other groups were normal. In conclusion, enteral S. boulardii prevented OPV-induced IgAN in mice.     

Epstein-Barr virus encephalitis: findings of MRI, MRS, diffusion and perfusion

Epstein-Barr virus is an infection that is known as infectious mononucleosis. Even though the central nervous system is not a primary region of involvement of this disease, neurological complications are reported rarely. In this case report, we evaluated a 15-month-old male who presented to the pediatric neurology clinic due to high fever and a neurologic attack. His serological tests and radiological examinations (magnetic resonance imaging (MRI), MR spectroscopy (MRS), diffusion-weighted imaging (DWI) and MR perfusion) were consistent with Epstein-Barr virus encephalitis, which is a very rare complication of infectious mononucleosis. Additionally, we discuss the MRI, MRS, DWI and MR perfusion findings of our case, which were different from other cases reported in the literature.     

Lack of awareness of Hepatitis B screening and vaccination in high-risk groups

Background/aim Hepatitis B virus (HBV) vaccination rates are insufficient in high-risk patients worldwide. This study aimed to investigate the screening, immunization, and vaccination rates in three high-risk groups for HBV infection: allogeneic hematopoietic stem cell transplantation (AHSCT), renal transplantation (RT), and chronic hepatitis C (CHC) groups. Materials and methods The serological data of consecutive patients between 2014 and 2019 were reviewed using the hospital database. Results The HBV screening rates were 100.0%, 90.4%, and 82.4% in the AHSCT, CHC, and RT groups, respectively (p = 0.003). The immunization rates against HBV through either previous exposure or vaccination were 79.5%, 71.7%, and 46.5% in the AHSCT, RT, and CHC groups, respectively (p < 0.001). The HBV vaccination rate was significantly low in the CHC group (71.5%, 69.0%, 34.6% in the AHSCT, RT, and CHC groups, respectively, p < 0.001). If patients lost their immunity due to immunosuppressive therapy were accounted, the vaccination rates increased to 95.2% in the AHSCT group and 72.9% in the RT group. The rate of annual screening for HBV status was 97.9% in the AHSCT group, but it was only 23.9% in the RT group. Conclusion HBV screening and vaccination rates were significantly lower in the RT and CHC groups than in the AHSCT group.     

A very rare case of single coronary artery anomaly, with left anterior descending and left circumflex arteries originating separately from proximal right coronary artery

Coronary artery anomalies are rare, with the reported prevalence of 0.2% to 1% in routine angiographic studies. Among them, presence of a single coronary artery is one of the rarest anomalies, comprising less than 3% of all coronary anomalies. In this article we report a case of single coronary artery anomaly with left anterior descending and left circumflex arteries arising separately from proximal right coronary artery, and left anterior descending artery reaching atrioventricular sulcus by passing between aortic and pulmonary artery trunci. The patient underwent off-pump coronary artery bypass grafting and is currently symptom-free.     

An atypically localized atrial myxoma: a case report

Atypical cardiac myxomas are rare occurrences and may present with a variety of clinical manifestations depending on the location and morphology. A 46-year-old woman had a 4 x 3 x 2-cm myxoma originating from the superior wall of the left atrium, found by echocardiography and multislice tomography. The tumor was successfully treated by surgical excision. The resected tumor was a well-defined encapsulated mass with a narrow-base stalk originating from the right wall of the left atrium in between the right upper and lower pulmonary vein. The patient recovered without complication and was discharged 6 days after the operation. At 1-year follow-up, echocardiography revealed normal cardiac function without reccurence in terms of mass. Although up to 80% of myxomas are localized in the left atrium, of which 75% involve in the interatrial septum, it should not be forgotten that myxomas can appear in an atypical localization, as occurred in our case.     

Prevalence of mucosal types of human papillomavirus in skin lesions in north part of Iran

Human papillomaviruses (HPVs) consist of more than 100 types and are known to be associated with numerous malignant tumors, including carcinomas of the mucosal and cutaneous epithelium. Non-melanoma skin cancer (NMSC) is the most frequently occurring malignancy worldwide in the Caucasian population. Some studies have shown that NMSC biopsy specimens harbor cutaneous as well as mucosal human papillomavirus, suggesting that mucosal types may play a role in development and progression of the tumor in skin. To investigate the presence of mucosal HPV types in skin lesions, we performed a retrospective study in which 288 paraffin embedded biopsies from benign and malignant skin lesions (NMSC) were collected. Using nested PCR with MY09/11 and GP5+/6+ primers mucosal HPVs were detected in 25.7% of malignant specimens, but just in 0.7% of benign lesions. Direct sequencing revealed HPV18 as the most frequent type, which was found in 75% of HPV-positive specimens. HPV16 and HPV56 were also detected, 22.3 and 2.7%, respectively. These findings suggest that, high-risk mucosal HPV types recently identified as significant risk factors for cervical cancer, may also represent a risk factor for non-melanoma skin cancer.     

Effects of Zoledronate on Irradiated Bone In Vivo: Analysis of the Collagen Types I, V and Their Cross-links Lysylpyridinoline, Hydroxylysylpyridinoline and Hydroxyproline

Radiotherapy can lead to a reduction of bone density with an increased risk of pathological fractures. Bisphosphonates may represent a preventive treatment option by increasing the density of anorganic bone mineral. Yet it is unknown how bisphosphonates act on irradiated collagen cross-links, which play an essential role for the mechanical stability of bone. The aim of this study was to evaluate the effects of zoledronate on bone collagens and their cross-links after irradiation. The right femur of 37 rats was irradiated with a single dose of 9.5 Gy at a high dose rate using an afterloading machine. Half of the rats (n = 18) received additionally a single dose zoledronate (0.1 mg/kg body weight). Fourteen and 100 days after irradiation the femora were collected for histologic evaluation and determination of the collagen cross-links lysylpyridinoline, hydroxylysylpyridinoline, and hydroxyproline. The collagen types were characterized by sodium dodecyl sulfate polyacrylamide gel electrophoresis. Fourteen days after treatment the lysylpyridinoline levels of all treatment groups were significantly lower compared to the untreated control. After 100 days, in the combined radiotherapy + zoledronate group significantly lower lysylpyridinoline values were determined (p = 0.009). Radiotherapy and/or zoledronate did not change significantly the level of hydroxylysylpyridinoline. The concentration of hydroxyproline was 14 days after irradiation significantly higher in the combined treatment group compared to the control. No significant differences were observed 100 days after treatment. Zoledronate does not have the ability to restore the physiological bone collagen cross-link levels after radiotherapy. However, this would be necessary for regaining the physiological mechanical stability of bone after irradiation and therefore to prevent effectively radiation-induced fractures.