Cardiac congenital defects related to inheritance and teratogenesis have been reported in veterinary species and humans worldwide. Among these, ectopia cordis (EC), characterized by an externalized heart through a cleft, is extremely rare in sheep. This report presents the diagnostic features of two cases of complete thoracic EC in newborn lambs. Clinical findings in the lambs, aside from the EC, were unremarkable. Both animals exhibited exteriorized hearts without pericardial coverage, delineated in the thoracic cleft by a fibrous ring of the pericardium and adjacent skin. Histologically, the epicardium was thickened by fibrous tissue in both lambs, with one animal also showing marked edema, hemorrhage, and neutrophilic inflammatory infiltration. The prognosis of EC in the lambs of this study was poor, with fatal outcomes despite attempts at surgical correction.

BACKGROUND: Chiari malformation type II (CMII) was originally reported in humans as a rare disorder characterized by the downward herniation of the hindbrain and towering cerebellum. The congenital brain malformation is usually accompanied by spina bifida, a congenital spinal anomaly resulting from incomplete closure of the dorsal aspect of the spinal neural tube, and occasionally by other lesions. A similar disorder has been reported in several animal species, including cattle, particularly as a congenital syndrome. A cause of congenital syndromic Chiari-like malformation (CSCM) in cattle has not been reported to date. We collected a series of 14 CSCM-affected Holstein calves (13 purebred, one Red Danish Dairy F1 cross) and performed whole-genome sequencing (WGS). WGS was performed on 33 cattle, including eight cases with parents (trio-based; group 1), three cases with one parent (group 2), and three single cases (solo-based; group 3).
RESULTS: Sequencing-based genome-wide association study of the 13 Holstein calves with CSCM and 166 controls revealed no significantly associated genome region. Assuming a single Holstein breed-specific recessive allele, no region of shared homozygosity was detected suggesting heterogeneity. Subsequent filtering for protein-changing variants that were only homozygous in the genomes of the individual cases allowed the identification of two missense variants affecting different genes, SHC4 in case 4 in group 1 and WDR45B in case 13 in group 3. Furthermore, these two variants were only observed in Holstein cattle when querying WGS data of > 5,100 animals. Alternatively, potential de novo mutational events were assessed in each case. Filtering for heterozygous private protein-changing variants identified one DYNC1H1 frameshift variant as a candidate causal dominant acting allele in case 12 in group 3. Finally, the presence of larger structural DNA variants and chromosomal abnormalities was investigated in all cases. Depth of coverage analysis revealed two different partial monosomies of chromosome 2 segments in cases 1 and 7 in group 1 and a trisomy of chromosome 12 in the WDR45B homozygous case 13 in group 3.
CONCLUSIONS: This study presents for the first time a detailed genomic evaluation of CSCM in Holstein cattle and suggests an unexpected genetic and allelic heterogeneity considering the mode of inheritance, as well as the type of variant. For the first time, we propose candidate causal variants that may explain bovine CSCM in a certain proportion of affected calves. We present cattle as a large animal model for human CMII and propose new genes and genomic variants as possible causes for related diseases in both animals and humans.

BACKGROUND: Congenital lumbar facet joint defect is a rare congenital developmental disorder with only a few reported cases in the literature, primarily affecting the L5-S1 segments. This study reports the first case of a defect in the left L3 inferior articular process; and presents a review of the existing literature on the subject, proposes a classification system, and validates the inter-observer and intra-observer reliability of this classification system.
METHODS: A 14-year-old boy presented to our orthopedic clinic with persistent lower back pain for 1 month. Imaging analysis, including CT scans, 3D reconstruction, and MRI, revealed a congenital lumbar facet joint defect at the L3 level, which has not been reported. Conservative treatment resulted in a significant improvement in his symptoms, and he is currently under follow-up care.
CONCLUSIONS: Congenital defect of the lumbar facet joint is a rare spinal condition. This article reports the first patient with a defect in the left L3 inferior articular process and conducts a comprehensive literature review, proposing a classification of articular process defects into five types. The two most common types are Types B and C. We have demonstrated that this system is reliable and reproducible and have described the treatment of each type.

An infratentorial abscess is a medical emergency. Common sources of abscesses are otogenic foci, sinusitis, or dental abscess, rarely congenital defects like dermoid cysts with sinus along with cerebrospinal axis can lead to infratentorial abscess. This case report describes a four-year-old girl with pus discharging from the occipital area. Radiological imaging revealed a cerebellar abscess with the sinus tract open exteriorly through an occipital cortical defect with obstructive hydrocephalus. The patient underwent neurosurgical intervention followed by antibiotic therapy. Histopathology of the tissue sample was suggestive of a dermoid cyst. Congenital defects should not be ignored. All newborns should have a thorough physical examination to identify birth defects. As these defects can cause life-threatening complications, early recognition with early surgical intervention is the treatment of choice.

Congenital cleft of the secondary palate occurs when there is failure of one or both maxillary processes to fuse with the nasal septum during embryonic development. Palatal cleft severity can range from a simple focal fissure of the caudal soft palate to full-thickness defects of varied widths involving the entire soft and hard palate. A novel staged medially positioned single mucoperiosteal flap technique in 4 canine patients is reported. This flap technique is based on the major palatine and infraorbital arteries with strategic extractions of maxillary teeth and placement of allograft membrane in 3 of 4 cases for treatment of clefts wider than may be repaired effectively by traditional methods.

Diagnosis of developmental dysplasia of the hip (DDH) mostly relies on physical examination and ultrasound, and both methods are operator-dependent. Late detection can lead to complications in young adults. Current evidence supports the involvement of environmental and genetic factors, such as single nucleotide variants (SNVs). Incorporating genetic factors into diagnostic methods would be useful for implementing early detection and management of affected individuals. Our aim was to analyze environmental factors and SNVs in DDH patients. We included 287 DDH cases and 284 controls. Logistic regression demonstrated an association for sex (OR 9.85, 95% CI 5.55-17.46, p = 0.0001), family history (OR 2.4, 95% CI 1.2-4.5, p = 0.006), fetal presentation (OR 3.19, 95% CI 1.55-6.54, p = 0.002), and oligohydramnios (OR 2.74, 95%CI 1.12-6.70, p = 0.026). A model predicting the risk of DDH including these variables showed sensitivity, specificity, PPV, and NPV of 0.91, 0.53, 0.74, and 0.80 respectively. The SNV rs1800470 in TGFB1 showed an association when adjusted for covariables, OR 0.49 (95% CI 0.27-0.90), p = 0.02. When rs1800470 was included in the equation, sensitivity, specificity, PPV and NPV were 0.90, 0.61, 0.84, and 0.73, respectively. Incorporating no-operator dependent variables and SNVs in detection methods could be useful for establishing uniform clinical guidelines and optimizing health resources.

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Congenital pericardial absence is an uncommon heart condition that is usually undiagnosed due to a lack of symptoms and awareness. In this case study, we present a 72-year-old patient who initially presented for medical evaluation due to unexplained weight loss, a displaced cardiac apex, and poor echocardiographic windows. An extracardiac tumor was suspected at first, but it was later determined that the patient had a congenital complete absence of the left pericardium. This case illustrates the possibility for benign pathology to present abnormally and details the clinical features, imaging findings, and management of congenital absence of the pericardium.

OBJECTIVE: To identify whether conventional methods of estimating fetal growth (Hadlock\'s formula), which relies heavily on abdominal circumference measurements, are accurate in fetuses with gastroschisis.
METHODS: A retrospective cohort study was performed between the period January 1, 2011 and December 31, 2021 in a tertiary referral maternity hospital identifying all pregnancies with a diagnosis of gastroschisis. Projected fetal weight was obtained using the formula (EFW [Hadlock\'s formula] + 185 g × [X/7]) where X was the number of days to delivery.
RESULTS: During the study period 41 cases were identified. The median maternal age was 25. The median BMI was 25 and 63% were primiparous women (n = 26). Median gestation at diagnosis was 21 weeks. Median gestation at delivery was 36 weeks. A total of 4.8% of mothers had a history of drug use (n = 2). The rate of maternal tobacco use was 21.9% (n = 9). A total of 4.8% of fetuses had additional congenital anomalies including amniotic band syndrome and myelomeningocele (n = 2). Estimated fetal weight (EFW) and birth weight data were available for 34 cases. A Wilcoxon signed-rank test showed projected EFW using Hadlock\'s formula did not result in a statistically significant different birth weight (Z = -1.3, P = 0.169). Median projected weight and actual birth weight were 2241.35 and 2415 g respectively. Median difference was 0.64 g (95% CI: -148 to -28.5).
CONCLUSIONS: Our data showed accuracy using standard formulae for EFW in fetuses with gastroschisis.

UNASSIGNED: Cleft lip and palate (CLP) is considered to be a congenital defect involving the orofacial region. This defect affects the esthetics, speech as well and psychological well-being of a person. The study was performed to analyze the prevalence of different types of cleft deformity reported in a tertiary care hospital which would aid in spreading awareness and thereby reducing the prevalence of this congenital defect.
UNASSIGNED: To study the demographic profile of patients with CLP in the Wardha region.
UNASSIGNED: A single-center retrospective cross-sectional study was performed. The patients with cleft deformity report under the \"Smile Train Project\" under the Department of Orthodontics and Dentofacial Orthopedics along with the Department of Oral and Maxillofacial Surgery. The data retrieved included the name of the patient, age, gender, residential address, contact details, and type of cleft. This data was segregated focusing on the gender and type of cleft as per the concern of this study. The datasets were then entered in the Microsoft Excel sheet and the statistical graphical representation was done using Microsoft PowerPoint.
UNASSIGNED: In the present study we tried to find out the profile of CLP in the local population. We reported the high prevalence of this orofacial deformity among the population of this area.
UNASSIGNED: The data from the present study will help to provide a deeper insight into the burden of CLP anomaly. Based on the data obtained from the present study, future research can be conducted, and cleft-care improvement outcomes can be measured.
UNASSIGNED: There are several etiological factors that are responsible for the development of CLP. Also, due to a lack of awareness regarding this, there is an increased prevalence of this defect. In India, due to a lack of knowledge regarding cleft anomaly, poverty, and social stigma, many patients do not report to the hospitals, and hence, there is a need to spread awareness which would encourage people to access the healthcare facilities at an early age and would reduce the complications in later stages.
UNASSIGNED: Shivlani VI, Niranjane PP, Diagavane PS, et al. Demographic Profile of Patients with Cleft Lip and Palate Anomaly: 15-year Experience from a Tertiary Care Hospital and Teaching Institute in Wardha District of Maharashtra, India. Int J Clin Pediatr Dent 2023;16(S-3):S278-S282.