Multiple Anomalous Coronary Arteries With Right Sinus of Valsalva Origin: A Case Report.

Coronary artery anomalies (CAA) define a wide array of congenital abnormalities that stem from the origin, course, and distribution of coronary arteries. CAAs can lead to severe complications such as arrhythmias, myocardial ischemia, and even sudden cardiac death. We describe the case of a 58-year-old female who presented to the emergency department with chest discomfort and shortness of breath and received a workup for acute coronary syndrome. She underwent a cardiac catheterization, which incidentally found an anomalous left anterior descending artery with a right sinus of Valsalva origin, an absent left circumflex coronary artery, and a dominant right coronary artery of unusually large caliber and distribution. There were no identified atherosclerotic plaques. This anomalous configuration of the coronary arteries is exceptionally rare. She required medical management with daily oral acetylsalicylic acid 81 mg, atorvastatin 80 mg, twice daily metoprolol tartrate 50 mg, and hydrocodone/acetaminophen 7.5mg/325 mg oral tablet to be taken every 4 h, as needed for severe pain. Despite optimal medical management, she continued to have chronic angina. A surgical evaluation by a cardiovascular surgeon deemed her anomaly to be inoperable.

Somatic RIT1 delins in arteriovenous malformations hyperactivate RAS-MAPK signaling amenable to MEK inhibition.

Arteriovenous malformations (AVM) are benign vascular anomalies prone to pain, bleeding, and progressive growth. AVM are mainly caused by mosaic pathogenic variants of the RAS-MAPK pathway. However, a causative variant is not identified in all patients. Using ultra-deep sequencing, we identified novel somatic RIT1 delins variants in lesional tissue of three AVM patients. RIT1 encodes a RAS-like protein that can modulate RAS-MAPK signaling. We expressed RIT1 variants in HEK293T cells, which led to a strong increase in ERK1/2 phosphorylation. Endothelial-specific mosaic overexpression of RIT1 delins in zebrafish embryos induced AVM formation, highlighting their functional importance in vascular development. Both ERK1/2 hyperactivation in vitro and AVM formation in vivo could be suppressed by pharmacological MEK inhibition. Treatment with the MEK inhibitor trametinib led to a significant decrease in bleeding episodes and AVM size in one patient. Our findings implicate RIT1 in AVM formation and provide a rationale for clinical trials with targeted treatments.

The importance of the 'uterine factor' in recurrent pregnancy loss: a retrospective cohort study on women screened through 3D transvaginal ultrasound.

STUDY QUESTION: What is the prevalence of congenital and acquired anomalies of the uterus in women with recurrent pregnancy loss (RPL) of unknown etiology examined using 3D transvaginal ultrasound (US)? SUMMARY ANSWER: Depending on the adopted diagnostic criteria, the prevalence of partial septate uterus varies between 7% and 14% and a T-shaped uterus is 3% or 4%, while adenomyosis is 23%, at least one of type 0, type 1 or type 2 myoma is 4%, and at least one endometrial polyp is 4%. WHAT IS KNOWN ALREADY: ESHRE and the Royal College of Obstetricians and Gynaecologists guidelines on RPL recommend the adoption of the 3D transvaginal US to evaluate the 'uterine factor'. Nevertheless, there are no published studies reporting the prevalence of both congenital and acquired uterine anomalies as assessed by 3D transvaginal US and diagnosed according to the criteria proposed by the most authoritative panels of experts in a cohort of women with RPL. STUDY DESIGN, SIZE, DURATION: This was a retrospective cohort study including 442 women with at least two previous first-trimester spontaneous pregnancy losses (i.e. non-viable intrauterine pregnancies), who referred to the obstetrics and gynecology unit of two university hospitals between July 2020 and July 2023. PARTICIPANTS/MATERIALS, SETTING, METHODS: Records of eligible women were reviewed. Women could be included in the study if: they were between 25 and 42 years old; they had no relevant comorbidities; they were not affected by infertility, and they had never undergone ART; they and their partner tested negative to a comprehensive RPL diagnostic work-up; and they had never undergone metroplasty, myomectomy, minimally invasive treatments for uterine fibroids or adenomyomectomy. Expert sonographers independently re-analyzed the stored 2- and 3D transvaginal US images of all included patients. Congenital uterine anomalies (CUAs) were reported according to the American Society for Reproductive Medicine (ASRM) 2021, the ESHRE/European Society for Gynaecological Endoscopy (ESGE) and the Congenital Uterine Malformation by Experts (CUME) criteria. Acquired uterine anomalies were reported according to the International Federation of Gynecology and Obstetrics (FIGO) and the Morphological Uterus Sonographic Assessment (MUSA) criteria. MAIN RESULTS AND THE ROLE OF CHANCE: The partial septate uterus was diagnosed in 60 (14%; 95% CI: 11-17%), 29 (7%; 95% CI: 5-9%), and 47 (11%; 95% CI: 8-14%) subjects, according to the ESHRE/ESGE, the ASRM 2021, and the CUME criteria, respectively. The T-shaped uterus was diagnosed in 19 women (4%; 95% CI: 3-7%) according to the ESHRE/ESGE criteria and in 13 women (3%; 95% CI: 2-5%) according to the CUME criteria. The borderline T-shaped uterus (diagnosed when two out of three CUME criteria for T-shaped uterus were met) was observed in 16 women (4%; 95% CI: 2-6%). At least one of FIGO type 0, type 1, or type 2 myoma was detected in 4% of included subjects (95% CI: 3-6%). Adenomyosis was detected in 100 women (23%; 95% CI: 19-27%) and was significantly more prevalent in women with primary RPL and in those with three or more pregnancy losses. At least one endometrial polyp was detected in 4% of enrolled women (95% CI: 3-7%). LIMITATIONS, REASONS FOR CAUTION: The absence of a control group prevented us from investigating the presence of an association between both congenital and acquired uterine anomalies and RPL. Second, the presence as well as the absence of both congenital and acquired uterine anomalies detected by 3D US was not confirmed by hysteroscopy. Finally, the results of the present study inevitably suffer from the intrinsic limitations of the adopted classification systems. WIDER IMPLICATIONS OF THE FINDINGS: The prevalence of CUAs in women with RPL varies depending on the classification system used. For reasons of clarity, the US reports should always state the name of the uterine anomaly as well as the adopted classification and diagnostic criteria. Adenomyosis seems to be associated with more severe forms of RPL. The prevalence rates estimated by our study as well as the replicability of the adopted diagnostic criteria provide a basis for the design and sample size calculation of prospective studies. STUDY FUNDING/COMPETING INTEREST(S): No specific funding was used. The authors have no conflicts of interest to declare. TRIAL REGISTRATION NUMBER: N/A.

Developmental Causes of Focal Segmental Glomerulosclerosis.

Background: Focal segmental glomerulosclerosis (FSGS) is a histological pattern of glomerular damage that includes idiopathic conditions as well as genetic and non-genetic forms. Among these various etiologies, different phenotypes within the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) have been associated with FSGS. Summary: Until recently, the main pathomechanism of how congenital kidney and urinary tract defects lead to FSGS was attributed to a reduced number of nephrons, resulting in biomechanical stress on the remaining glomeruli, detachment of podocytes, and subsequent inability to maintain normal glomerular architecture. The discovery of deleterious single-nucleotide variants in PAX2, a transcription factor crucial in normal kidney development and a known cause of papillorenal syndrome, in individuals with adult-onset FSGS without congenital kidney defects has shed new light on developmental defects that become evident during podocyte injury. Key Message: In this mini-review, we challenge the assumption that FSGS in CAKUT is caused by glomerular hyperfiltration alone and hypothesize a multifactorial pathogenesis that includes overlapping cellular mechanisms that are activated in both damaged podocytes as well as nephron progenitor cells.

Management of congenital cervical atresia with vaginal aplasia: A case report and review of the literature.

INTRODUCTION: Vaginal agenesis is a rare congenital condition, with an incidence of 1 in 4500 female births. CASE REPORT: We present a clinical case of vaginal aplasia with cervical atresia in a 31-year-old woman with primary amenorrhea. We aim to report the diagnostic process and provide a comprehensive outline of different possible treatments. DISCUSSION: The most common etiology of these agenesis cases is Mayer-Rokitansky-Küster-Hauser syndrome associated with uterine aplasia. However, vaginal aplasia can occur in 9 % of cases where the uterus is present. During embryogenesis, the Müllerian ducts give rise to the fallopian tubes, uterus, and upper two-thirds of the vagina, while the lower portion of the vagina develops from the urogenital sinus. Vaginal aplasia arises from a failure in the development of the terminal portion of the paramesonephric ducts. Abdominal pain, especially periodic pain, is the most common symptom, followed by primary amenorrhea. MRI is considered the gold standard for the diagnosis and precise description of female genital tract anomalies. CONCLUSION: Total hysterectomy remains a preferred option for cases of complete vaginal atresia to mitigate the risk of cervical or vaginal stenosis, adhesions, and pelvic inflammation resulting from poor menstrual blood drainage.

A Rare Case of Right Fourth Branchial Fistula: A Diagnostic Challenge.

Fourth branchial anomalies are extremely rare and are often misdiagnosed. A recurrent history of anterior neck discharges or infections since childhood should raise a high clinical suspicion of branchial fistula and necessitate a thorough clinical, endoscopic, and radiological evaluation. We report a rare case of right-sided fourth branchial fistula in a middle-aged lady who was referred to us for recurrent right neck infections since childhood and had received multiple courses of antibiotics and drainage of abscesses. Despite previous negative barium swallow and fistulogram results, the diagnosis of the branchial fistula was made clinically with the spillage of methylene blue dye into the apex of the right pyriform sinus from flexible nasopharyngolaryngoscopy in the clinic after the injection of dye through the fistula opening at the neck. Finally, another barium swallow study and computed tomography scan were conducted, revealing the fistula tract. Complete surgical excision of the fistula tract was then performed with no evidence of recurrence after six months of follow-up.

Maternal diseases and congenital anomalies of the kidney and urinary tract in offspring: a cohort study.

BACKGROUND: Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of prenatally diagnosed developmental malformation. This study aimed to assess the relationship between maternal diseases and CAKUT in offspring. METHODS: This retrospective study enrolled all pregnant women registered from January 2020 to December 2022 at one medical center. Medical information on maternal noncommunicable diseases, including obesity, hypertension, diabetes mellitus, kidney disease, hyperthyroidism, hypothyroidism, psychiatric disease, epilepsy, cancer, and autoimmune disease was collected. Based on the records of ultrasound scanning during the third trimester, the diagnosis was classified as isolated urinary tract dilation (UTD) or kidney anomalies. Multivariate logistic regression was performed to establish models to predict antenatal CAKUT. RESULTS: Among the 19,656 pregnant women, perinatal ultrasound detected suspicious CAKUT in 114 (5.8/1000) fetuses, comprising 89 cases with isolated UTD and 25 cases with kidney anomalies. The risk of antenatal CAKUT was increased in the fetuses of mothers who experienced gestational diabetes, thyroid dysfunction, neuropsychiatric disease, anemia, ovarian and uterine disorders. A prediction model for isolated UTD was developed utilizing four confounding factors, namely gestational diabetes, gestational hypertension, maternal thyroid dysfunction, and hepatic disease. Similarly, a separate prediction model for kidney anomalies was established based on four distinct confounding factors, namely maternal thyroid dysfunction, gestational diabetes, disorders of ovarian/uterine, and kidney disease. CONCLUSIONS: Isolated UTD and kidney anomalies were associated with different maternal diseases. The results may inform the clinical management of pregnancy and highlight potential differences in the genesis of various subtypes of CAKUT.

The role of coronary CT angiography in athletes.

The sudden death of a young or high-level athlete or adolescent during recreational sports is one of the events with the greatest impact on public opinion in modern society. Sudden cardiac death (SCD) is the principal medical cause of death in athletes and can be the first and last clinical presentation of underlying disease. To prevent such episodes, pre-participation screening has been introduced in many countries to guarantee cardiovascular safety during sports and has become a common target among medical sports/governing organizations. Different cardiac conditions may cause SCD, with incidence depending on definition, evaluation methods, and studied populations, and a prevalence and etiology changing according to the age of athletes, with CAD most frequent in master athletes, while coronary anomalies and non-ischemic causes prevalent in young. To detect silent underlying causes early would be of considerable clinical value. This review summarizes the pre-participation screening in athletes, the specialist agonistic suitability visit performed in Italy, the anatomical characteristics of malignant coronary anomalies, and finally, the role of coronary CT angiography in such arena. In particular, the anatomical conditions suggesting potential disqualification from sport, the post-treatment follow-up to reintegrate young athletes, the diagnostic workflow to rule-out CAD in master athletes, and their clinical management are analyzed.

The Role of Midwives in US Perinatal Palliative Care: A Scoping Review.

INTRODUCTION: Perinatal palliative care (PPC) is a rapidly growing and essential reproductive health care option for pregnant persons with a diagnosed life-limiting fetal condition who continue their pregnancy. The provision of PPC is within the scope of basic midwifery competencies, and midwives are well-positioned to make unique and valuable contributions to interprofessional PPC teams. However, little is known about midwives' past or current involvement in PPC in the United States. METHODS: This scoping review of the literature investigated what is known about the role of midwives in PPC in the United States. Multiple databases of published literature were used for this review: PubMed, CINAHL, Embase, Web of Science, ProQuest, Google Scholar, and relevant citations from identified studies. All types of English language publications addressing midwives' involvement in PPC in the United States were included, without any limitations on publication date. RESULTS: The role and contributions of midwives in PPC is not well represented in existing literature. Of the 259 results identified, 7 publications met criteria for inclusion. These included 5 case reports, one quantitative research article, and one conference abstract. Midwives are involved in PPC through the provision of direct clinical care (including antepartum, intrapartum, postpartum, neonatal, bereavement, postmortem, and follow-up care) and care planning and coordination as part of an interprofessional team. DISCUSSION: Despite midwives being uniquely positioned to provide holistic, family-centered, and person-centered care in situations of pregnancy with life-limiting fetal conditions, there is limited literature about their involvement in PPC in the United States. PPC should be incorporated into midwifery education and training programs. Midwives should play a central role in shaping future research and policies to ensure the accessibility and quality of PPC.

Psychological sequelae following second-trimester termination of pregnancy: A longitudinal study.

INTRODUCTION: The decision to terminate a pregnancy due to fetal anomalies can have a significant emotional impact, especially in second-trimester terminations. Previous studies on the psychological consequences of pregnancy termination have had limitations, and little is known about the outcomes for partners and the impact of fetal donation. Therefore, we aimed to investigate the psychological effects of second-trimester pregnancy termination and identify factors associated with outcomes in both women and men, including donation of fetal remains to science. MATERIAL AND METHODS: A longitudinal cohort study was conducted at the Amsterdam UMC in the Netherlands, involving women and partners who underwent termination at or before 23 weeks and 6 days of gestation. Questionnaires were administered at termination, 6 weeks, and 4 months after. We utilized validated questionnaires to assess psychological morbidity (grief, post-traumatic stress and postnatal depression and quality of life [QoL]), and factors that could potentially influence outcomes. RESULTS: Of 241 participants, women displayed more pronounced psychological distress than men, though both groups improved over time. Four months after termination, 27.4% of women and 9.1% of men showed signs of pathological grief. Scores indicative for postnatal depression occurred in 19.8% women and 4.1% of men. A prior psychiatric history was a consistent predictor of poorer outcomes. Fetal donation to the Dutch Fetal Biobank was associated with reduced likelihood of symptoms of complicated grief four months after termination. CONCLUSIONS: Second-trimester termination of pregnancy for fetal anomalies can lead to psychological morbidity, particularly in women. However, there is a notable improvement over time for both groups. Individuals with prior psychiatric history appear more vulnerable post-termination. Also, fetal donation to science did not have a negative impact on psychological well-being.

Exposure to golimumab during pregnancy: Results from the Company's global safety database.

Data on the use of golimumab (GLM) during pregnancy are limited. This study evaluated pregnancy outcomes in women treated with GLM during pregnancy. Cumulative data on GLM-exposed pregnancies from the Company's global safety database (GSD) are summarized. Cases were medically confirmed maternal exposures to GLM during pregnancy or within 3 months prior to conception with a reported pregnancy outcome. Pregnancy outcomes (e.g., live births) and congenital anomalies in prospectively reported cases (i.e., pregnancy outcome not known when first reported to the company) are presented in a descriptive manner. As of May 31, 2022, 261 prospectively reported pregnancies exposed to GLM were reported in the GSD: 214 (82.0%) live births (including six sets of twins), 31 (11.9%) spontaneous abortions (including one set of twins), 13 (5.0%) induced/elective abortions, 2 (0.8%) reported intrauterine death/still birth, and 1 (0.4%) fetal adverse event in an ongoing pregnancy. The majority of pregnancies had exposure to GLM at least in the first trimester of pregnancy. In total, seven congenital anomalies (7/261; 2.7%) were reported. Of these seven congenital anomalies, five were considered major according to EUROCAT classification version 1.4. Among the five prospectively reported congenital anomalies noted in live births (5/214; 2.3%), four were classified as major (4/214; 1.8%). The rates of adverse pregnancy outcomes and major congenital anomalies in prospectively reported pregnancy cases with exposure to GLM in the Company's GSD were consistent with published background rates for the general population.

The role of primary care in rare disorders: A qualitative study of parents and patients managing complex vascular anomalies.

Background: Patients with complex rare disorders often require the care of multiple specialists. Effective coordination between primary and specialty care is needed to ensure patients receive high-quality care. Previous research has documented the importance of primary care clinicians providing referrals to specialty care and the importance of specialists in helping patients reach a diagnosis. However, little is known about primary care clinicians' roles in the ongoing care of patients with rare disorders. In the current study, we explored the role of primary care clinicians in the care of rare and complex vascular anomalies. Materials and Methods: Data were collected using semi-structured qualitative interviews with 34 parents and 25 adult patients recruited from advocacy groups for patients with complex vascular anomalies participated. We asked participants about their diagnosis, care experiences, and communication with clinicians. We used thematic analysis to identify themes illustrating the roles of primary care clinicians. Results: PCC roles were characterized by four behaviors. Supporting behaviors included learning more about vascular anomalies and asking participants about the care they received from specialists. Facilitating included providing referrals, ordering tests, and engaging in problem-solving. Interfering included failing to provide referrals or help participants coordinate care, ordering incorrect tests, or making inappropriate recommendations. Disregarding included focusing narrowly on primary care needs and not showing concern about the vascular anomaly. Conclusions: The results reveal opportunities to improve primary care for patients with vascular anomalies. Disregarding and interfering behaviors furthered the division between primary and specialty care for patients with vascular anomalies and prevented patients from receiving comprehensive primary care. Supporting and facilitating behaviors convey genuine interest in the care of the vascular anomaly and a commitment to helping the patient and parent.

Optimal timing for plastic surgical procedures for common congenital anomalies: A review.

Apart from listening to the cry of a healthy newborn, it is the declaration by the attending paediatrician in the labour room that the child is normal which brings utmost joy to parents. The global incidence of children born with congenital anomalies has been reported to be 3%-6% with more than 90% of these occurring in low- and middle-income group countries. The exact percentages/total numbers of children requiring surgical treatment cannot be estimated for several reasons. These children are operated under several surgical disciplines, viz, paediatric-, plastic reconstructive, neuro-, cardiothoracic-, orthopaedic surgery etc. These conditions may be life-threatening, e.g., trachea-oesophageal fistula, critical pulmonary stenosis, etc. and require immediate surgical intervention. Some, e.g., hydrocephalus, may need intervention as soon as the patient is fit for surgery. Some, e.g., patent ductus arteriosus need 'wait and watch' policy up to a certain age in the hope of spontaneous recovery. Another extremely important category is that of patients where the operative intervention is done based on their age. Almost all the congenital anomalies coming under care of a plastic surgeon are operated as elective surgery (many as multiple stages of correction) at appropriate ages. There are advantages and disadvantages of intervention at different ages. In this article, we present a review of optimal timings, along with reasoning, for surgery of many of the common congenital anomalies which are treated by plastic surgeons. Obstetricians, paediatricians and general practitioners/family physicians, who most often are the first ones to come across such children, must know to guide the parents appropriately and convincingly impress upon the them as to why their child should not be operated immediately and also the consequences of too soon or too late.

Vesico-ureteral reflux diagnosis after initial kidney abscess: Results from a Paediatric Tertiary Hospital.

AIMS: Guidelines regarding voiding cystourethrogram (VCUG) indications following a paediatric kidney abscess are lacking. This study evaluates vesicoureteral reflux (VUR) prevalence and outcome after a first kidney abscess. METHODS: This retrospective study included all children presenting to a tertiary paediatric reference centre with de-novo kidney abscesses from 2011 to 2022, diagnosed through imaging (ultrasonography or computed tomography). VCUG's clinical utility was assessed by exploring outcomes related to interventions. RESULTS: Among the 17 patients (median age 9 months, IQR; 6 months-6 years), VCUG identified VUR in 7 (41%; 95% CI: 18-65%), including two with grade IV-V. Median abscess size was 19 mm (IQR; 14-27). 7/8 (88%) children with DMSA scan presented scars, including 4 with hypofunctioning (20%-44%), and one with a non-functioning kidney. Scarring on the DMSA scan was similar regardless of identified VUR. Six children had subsequent pyelonephritis. Three of the remaining 11 had grade I-III and two IV-V VUR. Surgery was required in four children overall: three for recurrent pyelonephritis and one for high-grade VUR and scars. CONCLUSION: Among initial kidney abscess cases, 41% had VUR, similar to children experiencing their first uncomplicated pyelonephritis. VCUG results guided antibiotic prophylaxis but not surgical decisions. We suggest considering VCUG following recurrent pyelonephritis/kidney abscess and/or kidney scarring.

Prevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies.

Congenital anomalies (CA) encompass all morphological or functional alterations originating prenatally and present at birth. The prenatal diagnosis of these anomalies can significantly impact the overall health of the pregnant individual and may influence her decision regarding the continuation of the pregnancy. In contexts where safe pregnancy termination is not guaranteed by the state, it can lead to unsafe procedures with severe consequences. In our research, we analyzed epidemiological information on CA to develop potential indicators of inequity in access to safe abortion prior to the legalization of legal termination of pregnancy in Argentina. We included cases from 13 public hospitals and 9 non-public subsector hospitals, from the period 2013-2020. Two groups of specific CA were selected: 1) CA capable of being prenatally diagnosed, and 2) CA related to vascular disruptive events. 10/18 of the selected CA capable of being prenatally diagnosed had a significantly higher prevalence in public hospitals (anencephaly, encephalocele, spina bifida, microcephaly, hydrocephalus, holoprosencephaly, hydranencephaly, diaphragmatic hernia, gastroschisis, bilateral renal agenesis). Non public hospitals had higher prenatal detection. Birth prevalence of CA related with vascular disruptive events (limb reduction, Moebius syndrome, amniotic band sequence) were significantly higher in public hospitals. These results suggest disparities in access to prenatal diagnosis and safe abortion based on socioeconomic status. There was a significant gap in access to prenatal diagnosis for CA and possibly to safe elective abortion depending on the type of institution (public vs. non-public).

Minor physical anomalies in schizophrenia and first-degree relatives in comparison to healthy controls: A systematic review and meta-analysis.

Minor physical anomalies (MPAs) are anatomical variations that are markers of aberrant early neurodevelopment. Schizophrenia is associated with increased MPA frequency, however, the frequency and distribution of MPAs exhibit substantial heterogeneity in schizophrenia and are not exclusive to this disorder. MPAs at different localizations might represent different developmental origins and might be related to latent genetic predisposition or vulnerability to develop full-blown psychosis. Therefore, we conducted a thorough review of minor physical anomalies (MPAs) in schizophrenia (Sch) and first-degree relatives (SchRel). Analyzing 52 studies published from January 1980 to October 2023, the meta-analysis compared MPA scores between 3780 schizophrenia patients and 3871 controls, as well as 1415 SchRel and 1569 controls. The total MPA score was significantly increased in schizophrenia compared to controls (g = 0.78 [0.63-0.93], p<0.001). In regional MPA meta-analyses, effect sizes ranged from 0.56 to 0.78. The difference between SchRel and controls was moderate (g = 0.44 [0.28-0.61], p<0.001). When individual MPA items were analyzed separately, fine electric hair, malformed ear, asymmetrical ear, curved 5th finger were anomalies that were shared between both schizophrenia and SchRel. Also, direct comparisons of the frequency of MPAs in schizophrenia and their relatives were conducted. Additionally, the early age of onset of schizophrenia was associated with mouth anomalies (Z=-2.13, p = 0.03), and ear anomalies were associated with a higher percentage of males in the schizophrenia group (Z = 2.64, p = 0.008). These findings support the notion that different MPAs might be associated with genetic susceptibility as well as vulnerability to developing full-blown psychosis. Studies investigating clinical and neurobiological correlates of MPAs in schizophrenia might be helpful in characterizing subtypes of psychoses that are associated with different developmental processes.

Congenital Lung Malformations: A Pictorial Review of Imaging Findings and a Practical Guide for Diagnosis.

The term congenital lung malformation (CLM) is used to describe a wide range of pathological conditions with different imaging and clinical manifestations. These anomalies stem from abnormal embryological lung development, potentially occurring across various stages of prenatal life. Their natural history can be variable, presenting in a wide range of severity levels and encompassing asymptomatic individuals who remain so until adulthood, as well as those who experience respiratory distress in the neonatal period. Through the PubMed database, we performed an extensive review of the literature in the fields of congenital lung abnormalities, including their diagnostic approach and findings. From our RIS-PACS database, we have selected cases with a final diagnosis of congenital lung malformation. Different diagnostic approaches have been selected, including clinical cases studied using plain radiograph, CT scan, prenatal ultrasound, and MR images. The most encountered anomalies can be classified into three categories: bronchopulmonary anomalies (congenital pulmonary airway malformations (CPAMs), congenital lobar hyperinflation, bronchial atresia, and bronchogenic cysts), vascular anomalies (arteriovenous malformation), and combined lung and vascular anomalies (scimitar syndrome and bronchopulmonary sequestration). CLM causes significant morbidity and mortality; therefore, the recognition of these abnormalities is necessary for optimal prenatal counseling and early peri- and postnatal management. This pictorial review aims to report relevant imaging findings in order to offer some clues for differential diagnosis both for radiologists and pediatric consultants.

Soft Tissue Vascular Anomalies of the Extremities: A Proposed Diagnostic Approach.

This narrative review aims to summarise the classification of vascular anomalies, their clinical presentation, and their radiological features to propose a diagnostic algorithm to approach patients with suspected soft tissue vascular anomalies of the extremities. The management of vascular anomalies necessitates a multidisciplinary approach. Clinical presentation and physical examination are sufficient in most cases to achieve a correct diagnosis. This is especially true for small congenital lesions of the skin and subcutaneous tissue. Imaging is used for accurate characterization of these lesions, especially in cases of atypical or vague clinical presentation, and to assess extension in cases of lesions that are larger and localized in deeper tissues.