Murine SEC24D can substitute functionally for SEC24C during embryonic development

The COPII component SEC24 mediates the recruitment of transmembrane cargos or cargo adaptors into newly forming COPII vesicles on the ER membrane. Mammalian genomes encode four Sec24 paralogs (Sec24a-d), with two subfamilies based on sequence homology (SEC24A/B and C/D), though little is known about their comparative functions and cargo-specificities. Complete deficiency for Sec24d results in very early embryonic lethality in mice (before the 8 cell stage), with later embryonic lethality (E7.5) observed in Sec24c null mice. To test the potential overlap in function between SEC24C/D, we employed dual recombinase mediated cassette exchange to generate a Sec24cc-d allele, in which the C-terminal 90% of SEC24C has been replaced by SEC24D coding sequence. In contrast to the embryonic lethality at E7.5 of SEC24C-deficiency, Sec24cc-d/c-d pups survive to term, though dying shortly after birth. Sec24cc-d/c-d pups are smaller in size, but exhibit no other obvious developmental abnormality by pathologic evaluation. These results suggest that tissue-specific and/or stage-specific expression of the Sec24c/d genes rather than differences in cargo export function explain the early embryonic requirements for SEC24C and SEC24D.

Dental evagination (dens evaginatus) of the second premolar in the upper jaw. Clinical case

Dens evaginatus (DE) is an odontogenic developmental abnormality that can be defined as a tubercle or bulge on the surface of a tooth, consisting of the outer layer of enamel, dentin, and possibly pulp. Early diagnosis and treatment of dental evagination is important to prevent untimely endodontic treatment, occlusal trauma, aesthetics, and the development of fissure caries. This pathology of tooth development is usually found on the premolars of the lower jaw as an additional tubercle or bulge between the buccal and lingual tubercles. DE in the maxillary premolar has been reported rarely in the literature. We report one such rare case in the maxillary premolar.Material and methods. The article describes a clinical case of treating a patient with dental evagination. For observation, we used X-ray images made with CBCT, as well as a photo protocol of the stages of patient treatment.Conclusions. Since this pathology is rare, the description of this clinical case will help doctors better understand the approaches to dental treatment with such anomalies in the development of tooth tissues.

Robert’s uterus with delayed diagnosis and potential consequences: a case report

A 24-year-old woman who wished to become pregnant presented to our hospital with an enlarged ovarian endometrioma and developmental abnormality of the uterus. Robert’s uterus complicated by hematosalpinx, ovarian endometrioma, and endometriosis were finally identified 1 year after previously being diagnosed with a cyst and uterine abnormality at a local hospital. The function of the salpinx and the pelvic environment were damaged because of the delayed diagnosis and operation. Gynecologists and sonologists should be aware of and alert to this rare entity while evaluating and managing cases of uterine abnormalities and endometriosis. Prompt early diagnosis and proper management of Robert’s uterus are important for avoiding future morbidity because these are major factors in protecting fertility.

Herlyn-Werner-Wunderlich (HWW) syndrome with kyphoscoliosis: a rare urogenital anomaly in a teenage girl

The obstructed haemivagina with ipsilateral renal agenesis (OHVIRA) syndrome also known as Herlyn-Werner-Wunderlich syndrome, a rare congenital malformation in females, results due to developmental abnormality in the müllerian duct. We are reporting a case of a 14-year-old girl who presented with pain and a lump in abdomen for the last 5 months. The MRI abdomen and pelvis confirmed the diagnosis of OHVIRA syndrome. The patient underwent haematocolpos and haematometra drainage, followed by vaginal septum resection.

Ectopia cordis about a case at Ourossogui regional hospital center

We report in this work, an extremely rare and major case of anterior body wall defects included ectopia cordis define by abnormal location of heart outside of the thorax. This case was diagnosed at the maternity of Ourossogui regional hospital center, in Senegal. Any scan was performed during the pregnancy. Newborn died 10 minutes after birth. Ectopia cordis is related to a possible ventral midline developmental abnormality. It’s associated to other midline abnormalities and is a part of pentalogy of Cantrell. An X-linked genetic abnormality.

Hypothermia – an unusual initial presentation of human immunodeficiency virus infection

We report an unusual case of human immunodeficiency virus (HIV) infection initially presenting with hypothermia and bradycardia associated with an HIV encephalitis. Searches reveal only five reported cases of spontaneous episodic hypothermia in the context of HIV infection. In our case, magnetic resonance imaging revealed the presence of a persistent cavum septum pellucidum (CSP), an anatomical and functional neuro-developmental abnormality, as well as changes compatible with an HIV encephalitis. Episodic hypothermia can occur in association with agenesis of the corpus callosum, known as Shapiro’s syndrome, and the presence of a persistent CSP in our case suggests it may have contributed to the clinical presentation.

Association between maternal hypertensive disorders of pregnancy and child neurodevelopment at 3 years of age: a retrospective cohort study

Hypertensive disorders of pregnancy (HDP) affect up to 10% of women during pregnancy and influence child neurodevelopment, including mental and motor function. We assessed whether HDP, including gestational hypertension, preeclampsia, superimposed preeclampsia, and eclampsia, correlate with motor and mental developmental abnormalities in 3-year-old children, using data obtained between April 2004 and March 2013 through a mandatory population-based health checkup of mothers and children in Kobe city, Japan. The primary outcome was motor and mental developmental abnormalities at 3 years of age; parental-reported questionnaires and physician’s medical examinations were evaluated. The association between maternal HDP and child neurodevelopmental abnormality was evaluated using a logistic regression model. Of the 43,854 participating children, 1120 were born to women with HDP and 42,734 were born to women without HDP. The prevalence of motor developmental abnormality was 1.7% in the exposed group and 0.95% in the control group; the prevalence of mental developmental abnormality was 2.41% in the exposed group and 1.22% in the control group. Children born to mothers with HDP did not have an increased risk of motor developmental abnormality at the age of 3 years [adjusted odds ratio (OR) 1.17, 95% confidence interval 0.72–1.91], but had an increased risk of mental developmental abnormality (adjusted OR 1.80, 95% confidence interval 1.21–2.69). Maternal HDP were associated with mental development abnormality in 3-year-old children. These findings may be clinically relevant; mental abnormality in children born to women with HDP could be detected during early stages, which would facilitate early intervention.