Naa12 compensates for Naa10 in mice in the amino-terminal acetylation pathway

Amino-terminal acetylation is catalyzed by a set of N-terminal acetyltransferases (NATs). The NatA complex (including X-linked Naa10 and Naa15) is the major acetyltransferase, with 40-50% of all mammalian proteins being potential substrates. However, the overall role of amino-terminal acetylation on a whole-organism level is poorly understood, particularly in mammals. Male mice lacking Naa10 show no globally apparent in vivo amino-terminal acetylation impairment and do not exhibit complete embryonic lethality. Rather Naa10 nulls display increased neonatal lethality, and the majority of surviving undersized mutants exhibit a combination of hydrocephaly, cardiac defects, homeotic anterior transformation, piebaldism and urogenital anomalies. Naa12 is a previously unannotated Naa10-like paralogue with NAT activity that genetically compensates for Naa10. Mice deficient for Naa12 have no apparent phenotype, whereas mice deficient for Naa10 and Naa12 display embryonic lethality. The discovery of Naa12 adds to the currently known machinery involved in amino-terminal acetylation in mice.

Night shift work undertaken by women and fertility treatment interact to increase prevalence of urogenital anomalies in children

ObjectiveTo investigate the role of maternal night shift work in occurrence of urogenital anomalies in offspring, considering a possible interaction with mode of conception.MethodsA population-based cohort comprising births in South Australia (1986–2002) was produced via linkage of fertility clinic records, perinatal and birth defects data. This study concerned first births to women in paid employment (n=98 103). Potential exposure to night shift was imputed by applying a job-exposure matrix to recorded occupation. Associations were examined using logistic regression, first for nurses and other night shift workers separately, then combined. An interaction term for night shift work and mode of conception was included in all models, while adjusting for covariates.ResultsAssociations were similar for nurses and other night shift workers, although only statistically significant for the former when considered separately. A multiplicative interaction was supported: for natural conceptions, maternal night shift work was not associated with offspring urogenital anomalies (OR=0.99, 95% CI 0.84 to 1.15); where a birth arose from fertility treatment, urogenital anomalies were significantly higher among births to all night shift workers compared with day workers (OR=2.07, 95% CI 1.20 to 3.55). This was not due to differences in the type of fertility treatment received.ConclusionsWomen in occupations that probably involved night shift did not have offspring with increased prevalence of urogenital anomalies if they conceived naturally. When night shift workers conceived with fertility treatment, the prevalence of urogenital anomalies was elevated. Possibly these women had the greatest exposure to night shift work, or least tolerance for this work schedule, or heightened sensitivity to hormonal aspects of fertility treatment.

A rare case of persistent urogenital sinus in an adult woman associated with unilateral rudimentary horn with ipsilateral renal agenesis and contralateral dermoid cyst

Persistent urogenital sinus (PUGS) is an uncommon developmental cloacal anomaly, with Incidence of 0.6 in 10000 female births. Herein we depict the case of a 22-year of age lady who presented with Infertility for 16 months with dyspareunia and was found to have Persistent urogenital sinus associated with other urogenital anomalies as unilateral rudimentary horn with ipsilateral renal agenesis and contralateral dermoid cyst. The patient was successfully treated with the excision of the sinus, the rudimentary horn and the dermoid cyst.

Unilateral Urogenital Disontogeny in a Dog

The purpose of this report was to describe an uncommon congenital anomaly in a dog. An 8-year-old, mixed-breed, male dog, was referred because of progressive difficulties on defecation. A complete diagnostic work-up (hematological analysis, radiology, ultrasound, and computed tomography), followed by surgery and histopathology, allowed us to diagnose the condition as unilateral urogenital disontogeny. The disorder was characterized by unilateral anomalies of the urinary tract (ectopic and dilated hydroureter, hydronephrosis, and renal dysplasia) associated with ipsilateral anomalies of the genital system (partial permanence of the duct of Wolff evolved into an epididymal-like structure and testicular agenesis). En bloc surgical excision of the complex of urogenital anomalies was performed with no complications during or after surgery. Surgery was considered to be effective in this dog since he no longer showed clinical signs of illness.

Congenital anomalies causing hemato/hydrocolpos: imaging findings, treatments, and outcomes

Hemato/hydrocolpos due to congenital urogenital anomalies are rare conditions discovered in neonatal, infant, and adolescent girls. Diagnosis is often missed or delayed owing to its rare incidence and nonspecific symptoms. If early correct diagnosis and treatment cannot be performed, late complications such as tubal adhesion, pelvic endometriosis, and infertility may develop. Congenital urogenital anomalies causing hemato/hydrocolpos are mainly of four types: imperforate hymen, distal vaginal agenesis, transverse vaginal septum, and obstructed hemivagina and ipsilateral renal anomaly, and clinicians should have adequate knowledge about these anomalies. This article aimed to review the diagnosis and treatment of these urogenital anomalies by describing embryology, clinical presentation, imaging findings, surgical management, and postoperative outcomes.

Imaging Diagnosis of Lateral Meningocele Syndrome

Lateral meningocele syndrome, also known as Lehman syndrome, is an exceptionally uncommon genetic disorder, which is characterized by specific facial features and multisystem involvement, including skeletal, cardiac, and urogenital anomalies, akin to other connective tissue disorders, but it is set apart by the unique occurrence of multiple lateral meningoceles. Knowledge of the distinctive imaging features can strongly suggest the diagnosis in patients with complex clinical presentations to assist in the guidance of appropriate and timely clinical management.

Naa12 rescues embryonic lethality in Naa10-Deficient Mice in the amino-terminal acetylation pathway

There is an enormous amount of variation in proteins introduced by co- and post-translational modifications, including N-terminal acetylation (NTA), catalyzed by a set of N-terminal acetyltransferases (NATs). The NatA complex (including X-linked Naa10 and Naa15) is the major acetyltransferase, with 40–50% of all mammalian proteins being potential substrates. However, the overall role of NTA on a whole-organism level is poorly understood, particularly in mammals. Male mice lacking Naa10 show no globally apparent in vivo NTA impairment and, surprisingly, do not exhibit embryonic lethality. Rather Naa10 nulls display increased neonatal lethality, and the majority of surviving undersized mutants exhibit a combination of hydrocephaly, cardiac defects, homeotic anterior transformation (including an extra thoracic rib), piebaldism and urogenital anomalies. The lack of complete embryonic lethality in Naa10-null mice is explained by the discovery of Naa12, a previously unannotated Naa10-like paralogue with NAT activity that genetically compensates for Naa10. Mice deficient for Naa12 have no apparent phenotype, except for decreased fertility, whereas mice doubly deficient for Naa10 and Naa12 display embryonic lethality, thus presenting the complete machinery for NatA-mediated NTA in mouse development.

Fibroadenoma of Ectopic Breast Tissue in the Groin – A Rare Disease Entity

Introduction/Objective Ectopic breast tissue (EBT) is a well-documented anomaly of the breast and commonly presents along the embryonic milk line extending between the axilla and groin. Reported incidence of accessory breast is 0.4–6% in females. Pathologies developing in an EBT are reported as a rare entity in the literature. Carcinoma is reported as the common pathology followed by inflammation and fibroadenoma Methods We present a case of 43-year- old female who presented with a painless mass in her right groin for the past year which gradually increased in size. CT abdomen pelvis with contrast showed a 2.2 x 3.0 x 4.4 cm superficial soft tissue mass in the right groin which was suspected to be a lymph node. Further investigation and histopathological report of biopsy showed ectopic breast tissue with admixed chronic inflammation and reactive changes.However, excision of the mass three months later showed showed proloferation of both glandular and stromal elements. Results The tissue from the biopsy was positive for GATA 3, mammoglobin, GCDFP and CD 10 and the histological features on excision was confirmatory of fibroadenoma. Conclusion In conclusion, when tumors or nodules are found along the mammary line, the presence of breast tissue should be considered during the investigation. It is clinically wise to evaluate and screen carefully cases of supernumerary breast for any pathology and for any associated urogenital anomalies such as supernumerary kidneys, polycystic kidneys and renal cell adenocaricnoma. In our case, patient had no associated urogenital anomalies and she is on follow up.