Congenital muscular dystrophy,myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin

Mutations in the PLEC1 gene encoding plectin have been reported in neonatal epidermolysis bullosa simplex with muscular dystrophy of later-onset (EBS-MD). A neuromuscular transmission defect has been reported in one previous patient. We report a boy presenting from birth with features of a congenital muscular dystrophy and late-onset myasthenic symptoms. Repetitive nerve stimulation showed significant decrement, and strength improved with pyridostigmine. Subtle blistering noticed only retrospectively prompted further genetic testing, revealing recessive PLEC1 mutations. We conclude that PLEC1 should be considered in the differential diagnosis of congenital muscular dystrophies and myasthenic syndromes, even in the absence of prominent skin involvement.     

Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research

Cyclopia is characterized by the presence of a single eye, with varying degrees of doubling of the intrinsic ocular structures, located in the middle of the face. It is the severest facial expression of the holoprosencephaly (HPE) spectrum. This study describes the prevalence, associated malformations, and maternal characteristics among cases with cyclopia. Data originated in 20 Clearinghouse (ICBDSR) affiliated birth defect surveillance systems, reported according to a single pre-established protocol. A total of 257 infants with cyclopia were identified. Overall prevalence was 1 in 100,000 births (95%CI: 0.89-1.14), with only one program being out of range. Across sites, there was no correlation between cyclopia prevalence and number of births (r = 0.08; P = 0.75) or proportion of elective termination of pregnancy (r = -0.01; P = 0.97). The higher prevalence of cyclopia among older mothers (older than 34) was not statistically significant. The majority of cases were liveborn (122/200; 61%) and females predominated (male/total: 42%). A substantial proportion of cyclopias (31%) were caused by chromosomal anomalies, mainly trisomy 13. Another 31% of the cases of cyclopias were associated with defects not typically related to HPE, with more hydrocephalus, heterotaxia defects, neural tube defects, and preaxial reduction defects than the chromosomal group, suggesting the presence of ciliopathies or other unrecognized syndromes. Cyclopia is a very rare defect without much variability in prevalence by geographic location. The heterogeneous etiology with a high prevalence of chromosomal abnormalities, and female predominance in HPE, were confirmed, but no effect of increased maternal age or association with twinning was observed.     

Fertility among testicular cancer survivors: a case-control study in the U.S.

Introduction

Testicular germ cell tumors (TGCT) disproportionately affect men between the ages of 15 and 49 years, when reproduction is typical. Although TGCT treatment directly affects gonadal tissues, it remains unclear whether there are long-term effects on fertility.

Methods

To examine post-TGCT treatment fertility, study participants in a previously conducted case-control study were contacted. The men were initially enrolled in the US Servicemen’s Testicular Tumor Environmental and Endocrine Determinants (STEED) study between 2002 and 2005. A total of 246 TGCT cases and 236 controls participated in the current study and completed a self-administered questionnaire in 2008–2009.

Results

TGCT cases were significantly more likely than controls to experience fertility distress (OR 5.23; 95% CI 1.99–13.76) and difficulty in fathering children (OR 6.41; 2.72–15.13). Cases were also more likely to be tested for infertility (OR 3.65; 95% CI 1.55–8.59). Cases, however, did not differ from controls in actually fathering children (OR 1.37; 95% CI 0.88–2.15). These findings were predominantly observed among nonseminoma cases and cases treated with surgery only or surgery-plus-chemotherapy.

Discussion

While expressing greater fertility distress, higher likelihood of fertility testing, and difficulty fathering children, these data suggest that TGCT survivors are no less likely to father children than are other men. It is possible that treatment for TGCT does not permanently affect fertility or, alternatively, that TGCT survivors attempt to father children with greater persistence or at younger ages than do other men.     

An Update of Current Practice in Hypospadias Surgery

Today, a multiple number of surgical techniques, modifications, and combinations of techniques are used to improve cosmetic and functional outcomes and to minimise the procedure burden for the patient. Nevertheless, controversy exists regarding the ideal management of hypospadias. This update is based on current literature following a systematic review using MEDLINE.     

Is there an ideal age for hypospadias repair? A pilot study

ObjectiveTo assess whether repairing hypospadias before or after 18 months affects psychological adjustment, health-related quality of life (HRQoL) and surgical outcome.Patients and methodsSeventy-seven boys aged 6–17 years were assigned to one of two groups, according to whether they had a hypospadias repair before or after the age of 18 months. The surgical outcome was assessed using the pediatric penile perception score by non-involved urologists. A psychologist interviewed the patients to assess HRQoL and gender-role behavior. The child's psychological adjustment was assessed with a questionnaire for parents.ResultsThe surgical outcome and complication rate were not significantly different between groups. A covariance analysis of HRQoL, gender-role behavior and psychological adjustment as a function of age at the last operation with current age as covariant was performed, but differences did not reach significance.ConclusionThis study does not provide evidence to support recommendations concerning the ideal age for hypospadias repair. In the absence of evidence of a benefit of early surgery, anesthesia-related risk factors must be considered when operating in very early infancy. Large, prospective studies, measuring surgical and psychological outcome with similar instruments to those presented may reveal whether there is a true ideal age for hypospadias surgery.     

Ranibizumab intravítreo en el tratamiento de membrana neovascular subretiniana en un caso de coroidopatía puntata interna

Case reportWe report the case of a 28-year old woman suffering loss of visual acuity in her left eye, who presented an image suggestive of a subretinal neovascular membrane in her left eye, and bilateral retinal lesions compatible with punctate inner choroidopathy (PIC). She was treated with intravitreal ranibizumab obtaining excellent results.DiscussionThe differential diagnosis must be made between PIC and the rest of “white dot syndromes” and the presumed ocular histoplasmosis syndrome (POHS). Antiangiogenic drugs may be a good alternative for the treatment of such diseases when they develop a subretinal neovascular membrane.