Holoprosencephaly, cephalothorax' appearance with multiple cardiac anomalies: a diagnostic challenge

Holoprosencephaly is one of the rare types of craniofacial congenital anomaly characterized by failure of differentiation of the procencephalon to diencephalon and telencephalon derivatives that accompanied by variable degree of orbitofacial dysmorphism. The case presented to our hospital in the third trimester of pregnancy with intrauterine fetal death was diagnosed prior to delivery as hydrocephalus to rule out hydrops fetalis. Autopsy examination showed distinctive features of holoprosencephaly of severe type in conjunction with a large head fused with the thorax to appear as a spherical ball ('cephalothorax' nature) and multiple cardiac malformations but with normally differentiated upper and lower limbs, intestines, female reproductive system and kidneys. We are reporting this unusual case to remind clinicians to be conscious on partly preventable teratogens specific to this anomaly, and if failed to do so, to diagnose as early as possible and terminate the pregnancy through vaginal route, within all the provision of the law.     

Thyroid neoplasms in Tikur Anbessa Hospital, Addis Ababa: a retrospective review with emphasis on cancer

Reportedly, thyroid cancer is a rare disease in most parts of the world. In Ethiopia, the prevalence of the disease is not known. This study aims to present the experience on thyroid cancer of a main central referral hospital. During the period 1993-02, 137 cases of thyroid neoplasms were operated on in Tikur Anbessa Teaching Hospital, Addis Ababa. Of these, 114 of 130 patients whose records were retrieved were retrospectively reviewed Neoplastic disease of the thyroid was found to be more common in younger age groups (mean age, 37 years) and in females (F: M ratio, 1.7: 1.0). Features of advanced malignant disease were not rare (21 cases). Of the 75 thyroid cancers, papillary carcinoma was the most common histologic type (72%). The extent of surgical treatment included partial, subtotal, near total and total thyroidectomy. In 15 cases, the lesions were found to be unresectable. The long-term outcome of treatment was difficult to evaluate, as the follow-up time was short. We believe that this paper will give base-line information on the frequency of thyroid cancer (7.5%) for a more comprehensive study in the future.     

2'-5' oligoadenylate synthetase 1 polymorphism is associated with prostate cancer

BACKGROUND:

The antiviral, proapoptotic, antiproliferative gene 2′‐5′ oligoadenylate synthetase (2‐5OAS1) converts adenosine triphosphate into a series of 2′‐5′ oligoadenylates (2‐5A). In turn, 2‐5A activates latent ribonuclease (RNaseL), a candidate hereditary prostate cancer gene. OAS1 polymorphism (reference single nucleotide polymorphism [SNP] 2660 [rs2660]) has been associated with increased susceptibility to infections and various diseases. In general, the low‐enzyme‐activity adenine‐adenine (AA) genotype promotes susceptibility, whereas the high‐enzyme‐activity guanosine‐guanosine (GG) genotype confers protection. In this study, the authors investigated the association of this functional OAS1 polymorphism (rs2660) with prostate cancer.

METHODS:

Sample size and power were calculated using a power calculation software program for case‐control genetic association analyses. Genomic DNA samples from a control group (n = 140) and from a case group of patients with prostate cancer (n = 164) were used for genotyping SNPs rs2660, rs1131454, and rs34137742 in all samples. Statistical analyses were performed using a logistic regression model.

RESULTS:

A significant association was observed between the rs2660 genotype (A/G) and prostate cancer. Genotype AA increased the risk, whereas genotype GG decreased the risk of prostate cancer. The GG genotype was not observed in the African American samples. The AA genotype also increased the risk of prostate cancer with age.

CONCLUSIONS:

The OAS1 SNP rs2660 AA genotype was associated significantly with prostate cancer, whereas the GG genotype protected against prostate cancer. OAS1 rs2660 may be a prostate cancer susceptibility polymorphism, which is a significant observation, especially in a context of the OAS1‐RNaseL pathway. Thus, a functional defect in OAS1 because of the rs2660 SNP not only can attenuate RNaseL function but also can alter cell growth and apoptosis independent of RNaseL. Cancer 2011;. © 2011 American Cancer Society.     

Estrogen treatment success in recurrent and persistent labial agglutination

STUDY OBJECTIVE: To estimate the success rate of conservative medical management and indications for surgery in cases of recurrent and/or persistent labial agglutination. DESIGN: A retrospective chart review was performed of girls treated for labial agglutination between 1996 and 2004. Records were reviewed for age, length of time of symptoms, previous treatments, results of topical estrogen therapy, and indications for surgery. SETTING: The study was performed in a tertiary care teaching university hospital. PARTICIPANTS: Charts of 67 girls with labial agglutination who were treated at the pediatric and adolescent gynecology clinic between 1996 and 2004 were reviewed. The average age was 4.1 years (range 0.6-14 years). INTERVENTIONS: None. MAIN OUTCOME MEASURES: Improvement of persistent or recurrent agglutination labial agglutination with estrogen. RESULTS: Out of the 67 charts reviewed, 48 had recurrent or persistent disease. Within those 48 girls, initial treatments included: topical estrogen in 40 (83%), oral and topical estrogen in 1 (2%), topical estrogen in addition to manual separation in 5 (10%), and treated with manual separation alone in 2 (4%). Five girls were immediately treated surgically due to urinary problems or parents declining further topical treatment. Forty-three were treated with topical estrogen therapy with the following results: 15 opened either partially or completely, 9 required surgery, and 19 did not follow up. In the subset of girls with prior manual separation, 2 had resolution of adhesions with estrogen, 3 required surgery, and 2 had no follow-up. CONCLUSION: This study suggests that re-treatment of persistent or recurrent labial agglutination with topical estrogen therapy following detailed application instruction leads to avoidance of surgical intervention in at least 35% of cases. Even in cases which previously required manual separation, an attempt at conservative medical management may be considered.     

Dipeptide forms of glycine support mouse preimplantation embryo development in vitro and provide protection against high media osmolality

Purpose  

To examine potential benefits of dipeptide forms of amino acids for embryo culture by determining ability of dipeptide glycine forms to support embryo development, act as osmolytes, and reduce ammonia production.     

Validity of the Patient-Reported Clinical Global Impression of Change as a Measure of Treatment Response in Men with Premature Ejaculation

IntroductionThe Clinical Global Impression of Change (CGIC) measures have high utility in clinical practice. However, it is unknown whether the CGIC is valued for assessing premature ejaculation (PE) symptoms and/or the relationship between CGIC and other validated PE patient-reported measures.AimThe study aims to assess the validity of the patient-reported CGIC measure in men with PE and to examine the relationship between CGIC ratings and assessments of control, satisfaction, personal distress, and interpersonal difficulty.MethodsData from a randomized, double-blind, 24-week phase 3 trial in 1,162 men with PE who received dapoxetine (30 mg or 60 mg) or placebo on demand provided the basis for the analysis. Patients were ≥18 years, in a stable monogamous relationship for ≥6 months, met the Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition-Text Revision criteria for PE for ≥6 months, and had an intravaginal ejaculatory latency time (IELT) ≤2 minutes in ≥75% of intercourse episodes.Main Outcome MeasuresThe CGIC asked patients to rate improvement or worsening of their PE compared with the start of the study using a 7-point response scale; other patient-reported measures were control over ejaculation, satisfaction with sexual intercourse, interpersonal difficulty, and personal distress related to ejaculation. Stopwatch-measured IELT was recorded. Associations between CGIC and change in other measures at study end point were assessed.ResultsThe magnitude of IELT increased for each category of improvement on the CGIC: 1.63, 4.03, and 7.15 minutes for slightly better, better, and much better, respectively. Higher CGIC ratings were correlated with greater improvement in control (r = 0.73), satisfaction (r = 0.62), greater reduction in distress (r = ?0.52), and interpersonal difficulty (r = ?0.39). Total variance accounted for was 57.4%: control (48.7%), satisfaction (4.5%), IELT (2.8%), and distress (1.15%).ConclusionsThe analyses support the validity of the CGIC measure in men with PE. The CGIC can provide clinicians in practice with a valid and brief outcome assessment of their patient's condition. Althof SE, Brock GB, Rosen RC, Rowland DL, Aquilina JW, Rothman M, Tesfaye F, and Bull S. Validity of the patient-reported clinical global impression of change as a measure of treatment response in men with premature ejaculation.     

Growing Ignorance of COVID-19 Preventive Measures in Ethiopia: Experts' Perspective on the Need of Effective Health Communication Strategies

Despite the recent surge of COVID-19 infections in Ethiopia, we are observing a profound ignorance of preventive measures by the general public and leaders at different levels. This is presenting considerable challenges in the effort to contain and control the pandemic. We believe that the current health communication approach implemented by the health authorities and media outlets need to be redesigned to bring a sustainable COVID-19 preventive behavior. The purpose of this perspective paper, therefore, is to stimulate discussions on effective health communication strategy to help the public persistently practice COVID-19 preventive measures over the long term. We undertook a series of discussions amongst the authors in order to synthesize individual viewpoints into ‘experts'' perspective’ driven by our daily observations and our expertise in the health service research. In light of this, we suggested that an effective health communication strategy need to address context specific situations to avoid temptation to ignore the ramifications of this very serious pandemic. This strategy includes trying to make sense of daily reported COVID-19 cases, being highly selective regarding sources of information, and being sensitive and responsive to religious and cultural factors. The media, health professionals, and leaders need to teach us how to live with the pandemic informed by robust scientific sources.     

Perceived control over ejaculation is central to treatment benefit in men with premature ejaculation: results from phase III trials with dapoxetine

OBJECTIVES

To assess the utility of perceived control over ejaculation (‘control’) in the evaluation of treatment benefit in men with premature ejaculation (PE), and to compare effects associated with a two‐category or greater increase in this variable between men receiving dapoxetine and placebo.

PATIENTS AND METHODS

This subanalysis used combined data from all treatment groups in an integrated analysis of two identically designed, 12‐week, double‐blind, randomized, placebo‐controlled trials of dapoxetine. Men (2614) met the Diagnostic and Statistical Manual of Mental Disorders (fourth edition, text revision) criteria for PE, had a stopwatch‐measured intravaginal ejaculatory latency time (IELT) of ≤2 min in ≥75% of events in a 2‐week baseline period, and self‐reported moderate or severe PE. Men received placebo or dapoxetine 30 or 60 mg, 1–3 h before intercourse. The stopwatch‐measured IELT was recorded for each episode; the patient‐reported global impression of change (PGI; 7‐point scale, ‘much worse’ to ‘much better’), control and satisfaction with sexual intercourse (5‐point scales, ‘very poor’ to ‘very good’) were assessed monthly. The utility of a two‐category or greater increase in control was evaluated by examining the relationship of this variable with IELT and satisfaction with sexual intercourse.

RESULTS

Of 2341 men with baseline and endpoint assessments, 96.8% reported ‘very poor’ or ‘poor’ control at baseline, and 748 (32%) reported a two‐category or greater increase in control after treatment. More than 95% of those men rated their PE as ‘slightly better’, ‘better’, or ‘much better’ on the PGI; 67.1% gave ratings of ‘better’ or ‘much better.’ They also had greater improvements in IELT than men with less than a two‐category increase in control, with a mean (sd ) change from baseline of 3.7 (4.3) vs 0.77 (1.8) min, respectively, and a greater percentage reported good or very good satisfaction with sexual intercourse than men with less than a two‐category increase in control (74% vs 19%, respectively). Nausea, headache and upper respiratory tract infection were the most common adverse events reported by men with a two‐category or greater increase in control (15.8%, 7.4% and 6.6%, respectively) and those without (8.5%, 5.5% and 6.5%, respectively). The proportions of men with a two‐category or greater increase in control with dapoxetine 30 and 60 mg were 36.3% and 44.5%, respectively (vs 15% with placebo).

CONCLUSIONS

A two‐category or greater increase in control (5‐point scale) is useful for assessing the treatment benefit in men with PE; it corresponds with improvements in the man’s perception of his condition, substantially greater prolongation of IELT, and higher levels of satisfaction with sexual intercourse.