Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men

Klinefelter syndrome and Y-chromosomal microdeletion analyses were once the only two genetic tests offered to infertile men. Analyses of aurora kinase C (AURKC) and DPY19L2 are now recommended for patients presenting macrozoospermia and globozoospermia, respectively, two rare forms of teratozoospermia particularly frequent among North African men. We carried out genetic analyses on Algerian patients, to evaluate the prevalence of these syndromes in this population and to compare it with the expected frequency of Klinefelter syndrome and Y-microdeletions. We carried out a retrospective study on 599 consecutive patients consulting for couple infertility at the assisted reproduction unit of the Ibn Rochd Clinique, Constantine, Algeria. Abnormal sperm parameters were observed in 404 men. Fourteen and seven men had typical macrozoospermia and globozoospermia profiles, respectively. Molecular diagnosis was carried out for these patients, for the AURKC and DPY19L2 genes. Eleven men with macrozoospermia had a homozygous AURKC mutation (79%), corresponding to 2.7% of all patients with abnormal spermograms. All the men with globozoospermia studied (n = 5), corresponding to 1.2% of all infertile men, presented a homozygous DPY19L2 deletion. By comparison, we would expect 1.6% of the patients in this cohort to have Klinefelter syndrome and 0.23% to have Y-microdeletion. Our findings thus indicate that AURKC mutations are more frequent than Klinefelter syndrome and constitute the leading genetic cause of infertility in North African men. Furthermore, we estimate that AURKC and DPY19L2 molecular defects are 10 and 5 times more frequent, respectively, than Y-microdeletions.     

Genetic evaluation of patients with non-syndromic male infertility

Purpose

This review provides an update on the genetics of male infertility with emphasis on the current state of research, the genetic disorders that can lead to non-syndromic male infertility, and the genetic tests available for patients.

Methods

A comprehensive review of the scientific literature referenced in PubMed was conducted using keywords related to male infertility and genetics. The search included articles with English abstracts appearing online after 2000.

Results

Mutations in 31 distinct genes have been identified as a cause of non-syndromic human male infertility, and the number is increasing constantly. Screening gene panels by high-throughput sequencing can be offered to patients in order to identify genes involved in various forms of human non-syndromic infertility. We propose a workflow for genetic tests which takes into account semen alterations.

Conclusions

The identification and characterization of the genetic basis of male infertility have broad implications not only for understanding the cause of infertility but also in determining the prognosis, selection of treatment options, and management of couples. Genetic diagnosis is essential for the success of ART techniques and for preserving future fertility as well as the prognosis for testicular sperm extraction (TESE) and adopted therapeutics.

     

Primitive pelvic bone hydatidosis: What an amazing extension

Hydatidosis is an anthropozoonosis mainly encountered in pastoral areas. It mostly affects the liver, lung, and rarely the bone and the soft tissues. Skeletal involvement is usually secondary to visceral hydatidosis. We report a case of a 49‐year‐old man presenting with one‐year history of a progressive left hip pain. On local examination, there was tenderness in the left gluteal region with reduction in the hip range of motion. Pelvic X‐ray revealed an expansive bone destruction involving the left hemi pelvis without periosteal reaction. A magnetic resonance imaging showed multiple cystic lesions extending from pelvic bones to the gluteal region. The possibility of hydatid disease was raised, and hydatid serology test was positive. No visceral involvement was found by additional examinations investigations revealed visceral hydatidosis. Thus, the diagnosis of a primary bone hydatid disease was established. No surgical excision was possible, and the patient was put on Albendazole. Echinococcosis should be ruled out while dealing with progressive expansive bony lesions. Surgical management remains a challenge especially if the involvement is very extensive.     

Seroprevalence of pertussis among healthcare workers: A cross-sectional study from Tunisia

This cross-sectional study aimed to assess pertussis seroprevalence among healthy healthcare workers (HCW) of the Children’s Hospital of Tunis, Tunisia. During the study period, 236 blood samples were obtained to determine HCW exposure to pertussis. Concentrations of immunoglobulin G (IgG) to pertussis toxin (PT) were measured using a commercial enzyme-linked immunosorbent assay. Cut-offs values used were 40 and 100?IU/ml, respectively indicative of an infection within the last year and a current/recent infection. Overall, seropositivity rate was 11.4% (95% CI 7.4–15.5) and 2.5% (95% CI 0.5–4.6) of ELISA results were indicative of a current infection. Seroprevalence was significantly most important in nurses (p?=?0.03) and in participants aged 21–31y (p?=?0.009). Our study confirmed that pertussis is circulating in hospital settings and affecting Tunisian HCW, in close contact with infants. Therefore, a booster dose of acellular pertussis vaccine needs to be considered.     

Carpal tunnel syndrome revealing a fibrolipoma of the median nerve

Clinical Rheumatology -     

Psoriatic arthritis associated with peliosis hepatis: characteristics and therapeutic management

Peliosis hepatis is characterized by hepatic sinusoidal dilatation and multiple blood-filled cystic cavities within the liver parenchyma. It can be due to infectious diseases, immunological disorders, neoplasia, and the use of various kinds of drugs. We presented the case of a nonsmoker 55-year-old man who complained about a 5-month history of arthritis. Medical history was consistent with psoriasis and hypertension. He denied any drug use or alcohol consumption. Physical examination showed extended psoriatic lesions. He had arthritis of the knees, ankles, wrists, and elbows. His body mass index was 22 kg/m². Laboratory findings revealed an increased serum gamma-glutamyl transferase level (1014 UI/L, normal value (N) 11–55) and total alkaline phosphatase (278 U/L, N 30–171). Hepatitis A, B, and C serologic test results were negative. Anti-nuclear antibodies, anti-Ro/SSA, anti-GP210, anti-SP100, anti-SLA, anti-LKM1, anti-M2, anti-LC1, and anti-PML were also negative. Histopathological examination of a liver biopsy specimen revealed peliosis hepatis.

The pelvic radiograph showed bilateral ankylosis of sacroiliac joints. Hand and foot radiographs showed periosteal bone apposition. The diagnosis of psoriatic arthritis associated with peliosis hepatis was made. The patient received infliximab (5 mg/kg) with a significant improvement after 3 months of follow-up. Peliosis hepatis should be considered as a possible etiology of liver enzyme abnormalities in patients with psoriatic arthritis. We highlighted the effectiveness and safety of the TNF inhibitors in the treatment of peliosis hepatis associated with psoriatic arthritis.

New Markers of Bone Fragility in Hemodialysis Patients: A Monocentric Study

Introduction: Mechanisms underlying bone fragility in patients under dialysis are various. The assessment of bone disorder is not yet codified in these patients. Our study aimed to determine the relationship between the serum fibroblast growth factor 23 (FGF23) level and bone fragility. We also aimed to assess the bone alkaline phosphatase (bAP) to the C-terminal telopeptide of type I (CTX) ratio and the FGF23*bAP product to CTX ratio in patients under hemodialysis. Methodology: We conducted a cross-sectional study, including 76 patients under hemodialysis. To assess bone fragility, we measured bAP, CTX, and FGF 23. We calculated the bAP to the CTX ratio (bAP/CTX) and the FGF23*bAP product to the CTX ratio (FGF23*bAP/CTX). We defined bone fragility as the existence of osteoporosis or fragility fractures. Receiver operating characteristic (ROC) curves were evaluated for each biological using the existence of osteoporosis or fragility fracture as the gold standard for bone fragility. Results: There were 51 men. The mean age was 53.36 ± 14.27 years. Bone fragility was noted in 25 cases. Patients with osteoporosis had higher FGF*bAP/CTX and bAP/CTX ratios. The ability of the ratio (bAP/CTX) to distinguish patients with osteoporosis from those without osteoporosis was good, with a ROC AUC of 0.707. The optimal ratio cut-off value with the highest accuracy was 9.72. The ability of the ratio (FGF23*bAP/CTX) to distinguish patients with bone fragility was good, with a ROC AUC of 0.701. The optimal ratio cut-off value with the highest accuracy was 1621.89 (sensitivity 60%, specificity 78.4%). Conclusion: Our study showed FGF23, FGF23*bAP product to CTX ratio, and the bAP to CTX ratio can be used as markers of bone fragility in hemodialysis patients. Therefore, these noninvasive and relatively inexpensive methods may serve to diagnose bone fragility in patients under hemodialysis.