Case Of Duplication Research Articles

Prenatal diagnosis of a fetus with 15q11q13 complex duplication syndrome and a literature review

To explore the clinical features and genetic etiology of a fetus with 15q11q13 complex duplication syndrome. A fetus diagnosed with 15q11q13 duplication syndrome at Ningbo Women and Children's Hospital on April 19, 2023 was selected as the study subject. Clinical data was collected, and the fetus was subjected to invasive prenatal diagnosis including G-banded karyotyping and chromosomal microarray analysis (CMA). Following the discovery of chromosomal duplication, trio-whole exome sequencing was carried out to exclude single base variants and confirm the parental original of the duplication. Optical genome mapping was also performed to delineate the structural arrangement of the duplication. Relevant literature was searched in the PubMed, Wanfang Medical Network and CNKI databases using "15q11q13", "duplication", "hexasomy" and "Six fold repetition" as the key words from January 1, 2000 to August 1, 2023 for a review of previously reported 15q11q13 hexasomy cases. This study was approved by the Ningbo Women & Children's Hospital (Ethics No. EC2020-048). The fetus was found to have a mosaicism karyotype of 48,X?,+mar,+idic(15)(q13)[33]/47,X?,+idic(15)(q13)[17]. CMA and trio-WES have all shown a six-fold duplication in the PWS/AS critical region (PWACR) at 15q11.2q13.2 and quadruple duplication of 15q13.2q13.3 region, which have derived from its mother and formed supernumerary marker chromosomes (SMCs). Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the 15q11.2q13.2 sixfold duplication was classified as pathogenic, whilst the 15q13.2q13.3 quadruple duplication was classified as variant of uncertain significance. Literature search has identified 11 cases of 15q11q13 duplication involving hexasomy of the PWACR, with all cases showing mental retardation, language delay and hypotonia, and most of them also had motor retardation, epilepsy and mild facial dysmorphism. Hexasomy for the PWACR combined with tetrasomy of 15q13.2q13.3 probably underlay the left hand polydactyly, polyhydramnios and intrauterine growth retardation in this fetus.

Drug-related problems (DRPs) in hypertensive patients at Karsa Husada Batu Hospital, East Java, Indonesia: Evaluation based on drug selection

Background: Hypertension significantly contributes to premature deaths globally. Drug selection has a vital role in the success of hypertension treatment, but incorrect selection could promote Drug-related problems (DRPs). Objective: This study evaluates DRPs based on the drug selection of inpatient hypertensive patients at Karsa Husada Batu Hospital, which is located in East Java, Indonesia. Method: This study was an observational study with a retrospective research design. The cases of DRPs were classified using the Pharmaceutical Care Network Europe (PCNE) DRP classification tool V9.1. This was total sampling research with the population of medical records of patients with hypertension without complications who were hospitalised at Karsa Husada Batu Hospital in 2018-2021. Result: This study involved 66 patients’ medical records. The DRPs of the drug selection occurred in 47 patients (71.21%), including 15 cases of drug use that did not comply with guidelines, 34 cases without indication for the drug used, 51 cases of improper combination of drugs, nine cases of inexact duplication of the therapeutic group, and 31 cases of no adequate drug for existing indication. Conclusion: Inappropriate drug combinations are the primary cause of DRPs based on drug selection, and there are no cases in which too many drugs are prescribed for an indication.

Anatomical variations of origin of the internal carotid artery: Report of two cases and systematic review of the literature.

Anatomical variations of origin of the internal carotid artery (ICA) are very uncommon and may pose a diagnostic and therapeutic challenge. We report a case of direct origin of the right ICA from the innominate artery (aplasia of common carotid artery) and a case of duplication of right ICA in healthy patients who performed duplex ultrasound (DUS) for primary cardiovascular prevention screening. In both cases, the ultrasound scan was performed both in a transverse plane and on the longitudinal axis, and in one of the two cases, a computed tomography angiography was performed to confirm the diagnosis. A review of the current literature about anatomical variations of origin of carotid arteries was also performed. The most frequent congenital anomaly is represented by the aplasia of the CCA, followed by the agenesis and by the duplication of the ICA. In most cases, the anomaly is discovered occasionally and symptoms are aspecific. Diagnosis is usually confirmed through a multimodality imaging approach, including DUS of extracranial carotid arteries, magnetic resonance imaging (MRI), and computed tomographic angiography. In most cases, treatment was conservative, with pharmacological therapy aimed at the symptoms. The recognition of such variations is mandatory, particularly when the patient needs a surgical treatment that may involve the vessel with the anatomical variations.

Polymelia and concurrent intestinal duplication and cloacal atresia in a broiler chick: case report and literature review.

Congenital malformations are a highly diverse group of conditions reported in both humans and animals, characterized by defects in morphogenesis observed at birth. Although most cases are idiopathic, genetic and environmental factors may be involved. The frequency of such conditions varies with species, geographic regions, and the specific malformation involved. In polymelia, supernumerary limbs are attached to different parts of the body. Gastrointestinal duplications are described less frequently and can be associated with polymelia. Cloacal atresia is among the least-reported malformations in avian species, described only once in a kiwi. Here we describe a case with these 3 malformations in a single broiler chick (Gallus gallus domesticus) and provide a literature review about the occurrence of these malformations in birds. The 3-d-old chick also had an unidentified structure projecting from the pygostyle region. We performed clinical, radiographic, and postmortem examinations. The intestinal duplication was identified only during the postmortem evaluation. Detailed descriptions of avian congenital malformations are scarce. Although similar cases have been reported, we retrieved no cases of concurrent polymelia, intestinal duplication, and cloacal atresia in broiler chickens in our literature search, suggesting that the simultaneous occurrence of these conditions has not been reported previously in this species.

Bladder duplication in the male cat: the first case report in China

BackgroundBladder duplication is a rare congenital lower urinary tract anomaly disease characterized by the presence of two bladders, possibly with duplication of the urethra. This disease is rarely reported in cats. The clinical symptoms are commonly occult, with increased difficulty in making a definitive diagnosis, especially if there is no obvious urethral duplication. The diagnosis is typically based on radiographs and ultrasound, with computer tomography serving as a more advanced imaging diagnostic modality. Cases of duplicated bladders with accessory tubular tissues are even scarcer in both human and veterinary medicine.Case presentationA 6-year-old male neutered cat was brought to the hospital because of vomiting and constipation. Cystography revealed increased soft tissue density of a fusiform structure in the lower middle abdomen. The purulent-filled cavitary structure and the accessory tubular structure were removed via surgery, and histopathological examination confirmed a double bladder with attached accessory tubular tissue. After antibiotic treatment, the cat recovered uneventfully.ConclusionThis is the first case of bladder duplication in China and the first case of feline bladder duplication with tubular structure attachment in the world. This information will provide a reference for the diagnosis and treatment of similar cases in the future.

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy

BackgroundARID1A/ARID1B haploinsufficiency leads to Coffin-Siris syndrome, duplications of ARID1A lead to a distinct clinical syndrome, whilst ARID1B duplications have not yet been linked to a phenotype. MethodsWe collected patients with duplications encompassing ARID1A and ARID1B duplications. Results16 ARID1A and 13 ARID1B duplication cases were included with duplication sizes ranging from 0.1-1.2 Mb(1-44 genes) for ARID1A and 0.9-10.3 Mb(2-101 genes) for ARID1B. Both groups shared features, with ARID1A patients having more severe intellectual disability, growth delay and congenital anomalies. DNA methylation analysis showed that ARID1A patients had a specific methylation pattern in blood, which differed from controls and from patients with ARID1A or ARID1B loss-of-function variants. ARID1B patients appeared to have a distinct methylation pattern, similar to ARID1A duplication patients, but further research is needed to validate these results. Five cases with duplications including ARID1A or ARID1B initially annotated as duplications of uncertain significance were evaluated using PhenoScore and DNA methylation re-analysis, resulting in the reclassification of two ARID1A and two ARID1B duplications as pathogenic. ConclusionOur findings reveal that ARID1B duplications manifest a clinical phenotype and ARID1A duplications have a distinct episignature that overlaps with that of ARID1B duplications, providing further evidence for a distinct and emerging BAFopathy caused by whole gene duplication rather than haploinsufficiency.

One Trocar-Assisted Retroperitoneoscopic Ureteroureterostomy for Ureteral Duplication.

Aim: To describe the operative technique and outcome of one trocar-assisted retroperitoneoscopic ureteroureterostomy (OTAU) in 40 cases of complete ureteral duplication in children. Patients and Methods: From September 2016 to December 2020, 40 patients (12 male and 28 female) less than 10 years of age underwent OTAU. A transverse skin incision of 12 mm in length was created approximately 1 cm above the iliac crest. Muscle was spared and retracted with stay sutures to expose the retroperitoneal space. Subsequently, a balloon trocar was then inserted, and pneumoperitoneum was achieved. A 10 mm operating laparoscope (Stema, Germany) with a Maryland was used to dissect and isolate the ureters from surrounding tissues. The ureters were then exteriorized and end-to-side ureteroureterostomy was performed using Polydioxanone (PDS) 6/0 running sutures. Patient's demographic, operative, and follow-up data were collected prospectively. Results: The mean age of patients was 25.2 months (range: 1-105 months). The mean operating time was 81.9 ± 11.3 minutes. There were no intraoperative conversions or complications. After a median follow-up time of 47.5 months, the differential renal function of the pathological upper pole moiety (UPM) was preserved in all patients. Ultrasound revealed a significant reduction in UPM's renal pelvis anterior-posterior diameter from 19.6 ± 9.1 mm preoperatively to 11.1 ± 6.7 mm postoperatively (p < 0.05), accompanied by a reduction in ureter's diameter from 10.8 ± 4.4 mm to 4.8 ± 1.2 mm (p < 0.05). Overall, all 32 patients with preoperative symptoms experienced complete symptom resolution. Conclusion: OTAU is a safe and feasible approach that yields excellent outcomes for complete ureteral duplication.

Urethral duplication with a large cystic dorsal penile mass in a newborn: a case report

BackgroundUrethral duplication is a rare urogenital anomaly with varying anatomical orientations leading to diverse clinical presentations. We present a case of urethral duplication in a neonate featuring a large dorsal cystic mass on the penis, an unusual presentation.Case presentationA term male neonate with a prenatally diagnosed 10 × 10 cm genitourinary cystic mass was delivered via caesarean section. Examination revealed a large cystic mass extending dorsally from the pubic symphysis over a flattened, elongated penile shaft with a single urethral opening in the glans and undescended testes. A size 6-French feeding tube inserted into the urethra drained the bladder.Urethral communication with the cystic mass was confirmed via voiding cystourethrogram and cyst enlargement noted during voiding. Cyst fluid analysis indicated a urinary origin. Computed tomography and ultrasound were not diagnostic. Initial imaging revealed a dorsal cystic mass projecting from the pubic symphysis without bladder connection.Surgical intervention at 3 weeks revealed a Type IIA-2 urethral duplication, with a dorsal hypoplastic urethra communicating with the posterior urethra. Correction included resection of the dorsal urethra, cyst excision, and reconstruction of the penis with the orthotopic ventral urethra and bilateral orchidopexies.Satisfactory functional and cosmetic outcomes were observed at 2 and 8 months after surgery.ConclusionThis case highlights the significance of identifying unique urethral duplication presentations. The novel occurrence of Type IIA-2 urethral duplication terminating in a dorsal cystic mass underscores diagnostic complexity, surgical intricacies, and aesthetic considerations associated with such cases.

Ureteral duplicity in a female patient with renal calculus in left UVJ, a case report.

Abstract: The ureters are tubular, bilateral, unique structures for each kidney, responsible for draining the urine collected in the renal pelvis to the bladder, so that it can later be eliminated. Ureteral duplication can be described as an abnormal urologic entity, with a frequency reported in 0.3 to 3% of the population. This anomaly is caused by the formation of double ureteral buds, which, in turn, form into separate structures and develop and form their own individual pelvic systems. A duplicated ureter is a result of early division of the ureteral bud into two or more completely or incomplete forms. Its diagnosis, for the most part, occurs incidentally, usually through imaging tests or even during surgery. The objective of this study is to report a case of incomplete ureteral duplication and to highlight the type of treatment performed in the face of obstruction due to lithiasis.

RETRACTION: How Reliable is Fetal Occiput and Spine Position Assessment Prior to Induction of Labor?

R. Kamel and A. Youssef, "How Reliable is Fetal Occiput and Spine Position Assessment Prior to Induction of Labor?," Ultrasound in Obstetrics & Gynecology 53, no. 4 (2019): 535-540, https://doi.org/10.1002/uog.19169. The above article, published online on 26 June 2018 in Wiley Online Library (wileyonlinelibrary.com), has been retracted by agreement between the authors, A. Youssef and R. Kamel; the journal Editor-in-Chief, Anthony Odibo; and John Wiley & Sons Ltd. The retraction has been agreed as the authors, A. Youssef and R. Kamel informed the journal team of numerous instances (48/136) of duplicated cases included within the study. Both authors agree that the error was unintentional. Due to the extent and nature of this error, the editors have lost confidence in the data presented.

Bilateral Complete Ureteral Duplication with Obstructing Stones in Both Left Ureters: A Case Report and a Review of Literature

Congenital anomalies like duplex renal collecting systems are rare developmental conditions. Among these anomalies, ureteral duplication is rarely observed, with partial ureteral duplication comprising a majority of cases. Bilateral ureteral complete duplication, where fully duplicated ureters drain separately into the bladder via separate orifices, is extremely rare, making it a seldom-documented anomaly in the medical literature. A case of bilateral complete ureteral duplication complicated by calculi in both the upper and lower moieties of the left kidney presented to the urology outpatient department with complaints of left flank pain for one month. His computed tomography-urogram revealed complete duplication of bilateral collecting systems with bilateral double ureters with an 8.2×5.9 mm2 sized stone in the pelvi-ureteric junction of the left upper moiety and 11.9×5.6 mm2 sized stone in the proximal ureter of left lower moiety causing hydronephrosis of both upper and lower moiety pelvicalyceal system. Calculi in both the upper and lower moieties were cleared in a single setting using a Ureteroscopic Lithotripsy. Duplex renal systems, while often asymptomatic, are linked to a higher occurrence of treatable conditions like stones and renal reflux diseases. The duplicated structure may lead to stagnant urine, causing obstructions and consequently infections. Stones that obstruct the ureter for a prolonged period can cause renal impairment and require active intervention. Currently, flexible or semirigid ureteroscopy with laser lithotripsy is the standard procedure. Even in this case, both stones were effectively managed in a single session using a standard procedure.

The Utility of Long-Read Sequencing in Diagnosing Genetic Autosomal Recessive Parkinson's Disease: a genetic screening study.

Mutations within the genes PRKN and PINK1 are the leading cause of early onset autosomal recessive Parkinson's disease (PD). However, the genetic cause of most early-onset PD (EOPD) cases still remains unresolved. Long-read sequencing has successfully identified many pathogenic structural variants that cause disease, but this technology has not been widely applied to PD. We recently identified the genetic cause of EOPD in a pair of monozygotic twins by uncovering a complex structural variant that spans over 7 Mb, utilizing Oxford Nanopore Technologies (ONT) long-read sequencing. In this study, we aimed to expand on this and assess whether a second variant could be detected with ONT long-read sequencing in other unresolved EOPD cases reported to carry one heterozygous variant in PRKN or PINK1. ONT long-read sequencing was performed on patients with one reported PRKN/PINK1 pathogenic variant. EOPD patients with an age at onset younger than 50 were included in this study. As a positive control, we also included EOPD patients who had already been identified to carry two known PRKN pathogenic variants. Initial genetic testing was performed using either short-read targeted panel sequencing for single nucleotide variants and multiplex ligation-dependent probe amplification (MLPA) for copy number variants. 48 patients were included in this study (PRKN "one-variant" n = 24, PINK1 "one-variant" n = 12, PRKN "two-variants" n = 12). Using ONT long-read sequencing, we detected a second pathogenic variant in six PRKN "one-variant" patients (26%, 6/23) but none in the PINK1 "one-variant" patients (0%, 0/12). Long-read sequencing identified one case with a complex inversion, two instances of structural variant overlap, and three cases of duplication. In addition, in the positive control PRKN "two-variants" group, we were able to identify both pathogenic variants in PRKN in all the patients (100%, 12/12). This data highlights that ONT long-read sequencing is a powerful tool to identify a pathogenic structural variant at the PRKN locus that is often missed by conventional methods. Therefore, for cases where conventional methods fail to detect a second variant for EOPD, long-read sequencing should be considered as an alternative and complementary approach.

Use of large language models to optimize poison center charting

Introduction Efficient and complete medical charting is essential for patient care and research purposes. In this study, we sought to determine if Chat Generative Pre-Trained Transformer could generate cogent, suitable charts from recorded, real-world poison center calls and abstract and tabulate data. Methods De-identified transcripts of real-world hospital-initiated poison center consults were summarized by Chat Generative Pre-Trained Transformer 4.0. Additionally, Chat Generative Pre-Trained Transformer organized tables for data points, including vital signs, test results, therapies, and recommendations. Seven trained reviewers, including certified specialists in poison information and board-certified medical toxicologists, graded summaries using a 1 to 5 scale to determine appropriateness for entry into the medical record. Intra-rater reliability was calculated. Tabulated data was quantitatively evaluated for accuracy. Finally, reviewers selected preferred documentation: original or Chat Generative Pre-Trained Transformer organized. Results Eighty percent of summaries had a median score high enough to be deemed appropriate for entry into the medical record. In three duplicate cases, reviewers did change scores, leading to moderate intra-rater reliability (kappa = 0.6). Among all cases, 91 percent of data points were correctly abstracted into table format. Discussion By utilizing a large language model with a unified prompt, charts can be generated directly from conversations in seconds without the need for additional training. Charts generated by Chat Generative Pre-Trained Transformer were preferred over extant charts, even when they were deemed unacceptable for entry into the medical record prior to the correction of errors. However, there were several limitations to our study, including poor intra-rater-reliability and a limited number of cases examined. Conclusions In this study, we demonstrate that large language models can generate coherent summaries of real-world poison center calls that are often acceptable for entry to the medical record as is. When errors were present, these were often fixed with the addition or deletion of a word or phrase, presenting an enormous opportunity for efficiency gains. Our future work will focus on implementing this process in a prospective fashion.

Appendicular Syndrome revealing ileal duplication (case report)

Introduction: Digestive duplications are rare congenital malformations in children, albeit not uncommon, characterized by a wide range of pathogenic, clinical, and histological variations. A definitive diagnosis relies on preoperative examination of the lesion followed by anatomopathological confirmation. Objective of this study was to investigate the epidemiological, clinical, and paraclinical aspects of digestive duplications, as well as their management and postoperative evolution. Herein, we present a case of ileal duplication in a 9-year-old child admitted with symptoms suggestive of appendicular syndrome, which was successfully managed with surgical treatment. Observation: The patient, a nine-year-old child, presented with symptoms consistent with appendicular syndrome. Abdominal ultrasound revealed indirect signs of appendicitis, along with minimal fluid collection in the right lower abdomen. Further exploration unveiled a mesenteric cystic mass comprising two portions, one of which was necrotic, while the appendix appeared normal. Subsequent resection of the mass was performed, and histopathological examination confirmed ileal duplication. The postoperative course was uneventful. Conclusion: Digestive duplications are rare malformations that should be considered, particularly when encountering digestive symptoms. Surgical excision remains imperative to prevent complications in an otherwise benign condition.

Clinical case of complete duplication of the right kidney in combination with non-refluxing megaureter of the upper and hydronephrosis of the lower segments

Clinical case of complete duplication of the right kidney in combination with non-refluxing megaureter of the upper and hydronephrosis of the lower segments

Cecal duplication cyst in an adult: A case report

Enteric duplication cysts are rare congenital malformations and cecal duplication cysts are rarer which develop only in 0.4% of cases of gastrointestinal tract duplication and only 43 cases have been reported in literature to date. The ileum and ileocecal junction are among the most common sites. We hereby report a case of a 50-year-old female who presented with signs and symptoms of acute intestinal obstruction that was clinically and radiologically interpreted as volvulus for which the patient underwent resection of the cyst and ileocecal anastomosis and was then histopathologically confirmed as cecal duplication cyst.

Video assisted thoracoscopy surgery a viable alternative for duplication cyst excision: a case report on foregut duplication cyst

Alimentary tract duplication is a relatively uncommon congenital abnormality. It can be found anywhere from the mouth to the anus and can be symptomatic or undetectable. Although congenital duplication can happen anywhere in the gastrointestinal tract, the ileum, oesophagus, and colon are the most common locations. The foregut, which includes the stomach, and first and second segments of the duodenum, is the source of one-third of all duplications. When foregut duplication involves the bronchial tree, respiratory symptoms are often present. Furthermore, excision through surgery is required for pathological examination of the resected specimen for definitive diagnosis. The most promising surgical approach for cyst excision has been thought to be open surgical resection through a posterolateral thoracotomy incision. However, video assisted thoracoscopy surgery has recently emerged as a viable surgical option for duplication cyst removal In paediatric surgery, video assisted thoracoscopy surgery has been established to facilitate the removal of mediastinal masses. However there is a limitation of research in the literature regarding the best surgical technique for oesophageal duplication cyst excision. In girls, foregut duplication is more common, especially in cases when bronchopulmonary involvement is present. While many duplications result in issues in early development, some are discovered by accident. When foregut duplication involves the bronchial tree, respiratory symptoms are often present. Haemoptysis and respiratory distress may be present in specific cases of the patient. Here, we described a 5-year-old male infant's case of foregut duplication with bronchial involvement and its management.

Efficiency of CNV-seq in detecting fetal DMD gene deletion or duplication in prenatal diagnosis

Objective: To evaluate the diagnostic efficiency of copy number variation sequencing (CNV-seq) to detect the deletion or duplication of DMD gene in prenatal diagnosis. Methods: A retrospective analysis was carried out on the CNV-seq results of 34 544 fetuses diagnosed in the First People's Hospital of Yunnan Province from January 2018 to July 2023. A total of 156 cases of fetuses were collected, including Group 1:125 cases with family history of Duchenne muscular dystrophy or Becker muscular dystrophy (DMD/BMD), and Group 2:31 cases with no family history but a DMD gene deletion or duplication was detected unexpectedly by CNV-seq. Multiplex ligation-dependent probe amplification (MLPA) was used as a standard method to detect the deletion or duplication. Consistency test was carried out basing on the results of CNV-seq and MLPA of all 156 cases. Results: Comparing to MLPA, CNV-seq had a coincidence rate of 92.3% (144/156) for DMD gene deletion or duplication, with a sensitivity and positive predictive value of 88.2%, with a specificity and negative predictive value of 94.3%, a missed detection rate of 3.8%, and a Kappa value of 0.839. CNV-seq missed 4 cases with deletions and 2 with duplications due to involved fragments less than 100 Kb, among 20 cases of deletions and 6 cases of duplications detected by MLPA in Group 1. In Group 2, the deletions and duplications detected by CNV-seq were 42% (13/31) and 58% (18/31), respectively, in which the percentage of duplication was higher than that in Group 1. Among those 18 cases with duplications, 3 cases with duplication locating in exon 42~67 were likely pathogenic; while 9 cases with duplication covering the 5' or 3' end of the DMD gene, containing exon 1 or 79 and with only one breakpoint within the gene, along with the last 6 cases with duplications locating at chrX: 32650635_32910000 detected only by CNV-seq, which might be judged as variants of uncertain significance. Conclusions: CNV-seq has a good efficiency to detect fetal DMD gene deletion or duplication in prenatal diagnosis, while a further verification test by MLPA is recommended. The duplications on chrX: 32650635_32910000, 5' or 3' end of DMD gene detected by CNV-seq should be carefully verified and assessed because those variants appear to be nonpathogenic polymorphisms.

Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases

BackgroundDistal Xq28 duplication, or int22h1/int22h2-mediated Xq28 duplication syndrome, leads to cognitive impairment, neurobehavioral issues, and facial dysmorphisms. Existing literature has limited information on clinical traits and penetrance.MethodsWe identified cases of distal Xq28 duplication (chrX: 154,126,575–154,709,680, GRCh37/hg19) through a review of clinical records and microarray reports from five centers, encompassing both postnatal and prenatal cases, with no prior family knowledge of the duplication.ResultsOur search found 47 cases across 26 families, with duplications ranging from 208 to 935 Kb. In total, 8 out of 26 index cases featured a 200–300 kb partial duplication, mainly from Armenian/Caucasian Jewish backgrounds. Most prenatal cases showed no major fetal ultrasound malformations. Of cases with known inheritance mode (15 out of 26), maternal inheritance was more common (80%). The study identified seven male carriers of the duplication from six unrelated families, indicating partial penetrance in males.ConclusionOur study provides key insights into distal Xq28 duplication. Most prenatal tests showed no major fetal ultrasound issues. Maternal inheritance was common, with unaffected mothers. In the postnatal group, a balanced gender distribution was observed. Among male family members, two fathers had ADHD, one was healthy, and one brother had mild symptoms, indicating partial penetrance in males.

CROHN'S DISEASE AND GASTROINTESTINAL REPERCUSSIONS: A DETAILED STUDY OF COMORBIDITIES AND CLINICAL IMPLICATIONS

Crohn's disease is a chronic inflammatory condition that affects the gastrointestinal tract, characterized by transmural and segmental inflammation that can involve any part of the digestive system, from the mouth to the anus. This pathology presents a wide range of clinical manifestations, including abdominal pain, diarrhea, rectal bleeding, fistulas, strictures and even extraintestinal complications. The complexity of Crohn's disease lies not only in its varied clinical presentation, but also in its comorbidities and clinical implications, which can significantly affect patients' quality of life and require multifaceted therapeutic approaches. Objective: To identify and synthesize the evidence available in the scientific literature over the last 10 years on the comorbidities and clinical implications of Crohn's Disease, in order to provide a comprehensive and updated view of this aspect of gastrointestinal pathology. Methodology: The systematic review was carried out in accordance with the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. The PubMed, Scielo and Web of Science databases were used to identify relevant studies published in the last 10 years. The descriptors used were "Crohn's disease", "gastrointestinal manifestations", "comorbidities", "clinical implications" and "systematic review". The inclusion criteria involved studies that specifically investigated the comorbidities and clinical implications of Crohn's Disease, with results available in English, Spanish or Portuguese. Exclusion criteria included duplicate studies, case reports and studies with small samples or less robust methods. Results: Analysis of the selected studies revealed a wide variety of comorbidities associated with Crohn's disease, including arthritis, dermatitis, uveitis, osteoporosis and liver disorders. Furthermore, the significant clinical implications of Crohn's disease were highlighted, such as increased risk of hospitalizations, need for intestinal surgeries and impact on patients' quality of life. Conclusion: Crohn's disease presents a clinical complexity that goes beyond intestinal manifestations, with a series of comorbidities and clinical implications that require an integrated and multidisciplinary approach in its management. This review highlights the importance of understanding these aspects to improve the care and quality of life of patients with this chronic gastrointestinal condition.