Diagnosis Of Malformations Research Articles

Congenital laryngeal anomalies in childhood

Background. Diagnosis of congenital malformations of the larynx in children is a difficult task for otorhinolaryngologists. The development and implementation of video endoscopic techniques has made a significant contribution to the understanding of anatomical changes in the larynx during CPR. Aim. To study the clinical manifestations of congenital malformations in children over 6 years of age. Materials and methods. Eighty three (100%) children with laryngeal malformations aged 6 to 18 years (10.1±0.6) were examined, who applied to the phoniatric department of the Saint-Petersburg Research Institute of Ear, Throat, Nose and Speech from 2002 to 2023. The number of boys is 39 (47%) people, girls – 44 (53%) people. The maximum incidence of children of both sexes was observed at the age of 8–12 years. Results. It should be noted that in all patients, this pathology was detected for the first time when contacting a phoniatrist. Dysphonia is expressed from birth in 30 (36%) patients. Three children also complained of difficulty breathing from birth. In 15 (18%) children, the voice remained normal. The purpose of their visit is a preventive examination. Dysphonia in the remaining 38 (46%) children appeared during increased vocal load. The structures of the congenital malformations are presented as follows: tissue defects 36 (43%) people, organ defects 34 (41%) people, combined organ-tissue defects 10 (12%) people, neurogenic defects 3 (4%). None of the examined patients had congenital tumors. Hypoplasia or grooves of the vocal folds were diagnosed in 20 (23%) cases in the group of tissue VPR. Nine (11%) patients suffered from arytenoid cartilage dyschronia, and 7 (8%) patients suffered from dysplasia. Organ defects were represented by dystopia or “crossing” of the arytenoid cartilages in 29 (35%) and epiglottis dysgenesis in 5 (6%). Based on the clinical and endoscopic picture of the larynx, we have identified two degrees of dystopia. The first degree was diagnosed in 18 (21%), and the second in 11 (13%) children. Conclusion. Patients with both tissue and organ cysts are characterized by the formation of nodules, cysts, mucosal hyperplasia, fusiform thickened edge of the vocal cord, chronic laryngitis, hypertrophy of vestibular folds. These changes should be considered as a compensatory and adaptive mechanism in conditions of forced vocalization due to anatomical changes in the larynx.

Chinese expert consensus on the etiological diagnosis of adult bronchiectasis

Bronchiectasis is a highly heterogeneous chronic airway disease for which accurate etiological diagnosis is crucial for effective management. A group of experts from the China Bronchiectasis Alliance and the Infection Assembly of the Chinese Thoracic Society conducted a comprehensive review of recent research into the etiology of bronchiectasis. Using the widely accepted Delphi methodology, the experts reached a consensus on the etiological diagnosis of bronchiectasis through multiple rounds of discussion and revision. The consensus is divided into four sections: the definition and classification of the etiology of bronchiectasis, the etiological diagnostic procedures for bronchiectasis, the treatable causes of bronchiectasis, and other causes of bronchiectasis. The ultimate goal of this consensus is to improve the diagnostic accuracy and optimize the management of bronchiectasis in China. The main recommendations of Section 1 focused on chest thin-section computed tomography (CT) for the diagnosis of bronchiectasis and the etiological classification. The main recommendations of Section 2 focused on the medical history collection for bronchiectasis and the etiological diagnostic protocol for bronchiectasis. The main recommendations of Section 3 focused on the recommendations of the diagnosis of bronchiectasis secondary to COPD, the diagnosis of bronchiectasis due to asthma, diffuse pan-bronchiolitis, allergic bronchopulmonary aspergillosis, connective tissue disease (CTD)-related bronchiectasis or gastroesophageal reflux disease (GERD)-related bronchiectasis. The main recommendations of Section 4 focused on suspected primary ciliary dyskinesia (PCD)-associated bronchiectasis, cystic fibrosis and the diagnosis of congenital airway malformations.

The foetus, a surgical patient

The 1970s saw a rapid growth of interest in the medical field in the prenatal diagnosis of congenital malformations. Among these, the incidence rate of pathology susceptible to surgical correction or otherwise requiring an operative act to allow survival or a satisfactory quality of life is much higher than is commonly thought.

When Giant Lymphangioma Meets Hydrops Fetalis: An Uncommon Case Report of Lower Extremity Involvement

Abstract Approximately 75% of lymphangiomas manifest in the head and neck region, with limb and bone involvement observed in only 2% of cases. This case report presents a rare instance of fetal lymphangioma associated with hydrops fetalis, affecting the left lower extremity and abdomen. A 22-year-old secundigravida woman was referred to the gynecology department at 31.2 weeks of gestation. Initial fetal ultrasound revealed a live fetus with a large lymphangioma involving the left lower extremity, gluteal region, and abdomen. Additional ultrasound findings included subcutaneous edema, pericardial effusion, ascites, placentomegaly, and tricuspid regurgitation. Postnatal clinical examination confirmed the diagnosis of lymphatic malformation. Notably, only one other similar case has been reported in the English-language PubMed database. This report adds to the medical literature as a rare instance of prenatally diagnosed lymphangioma-associated hydrops fetalis.

Prenatal Diagnosis of Reno-Urinary Malformations in a Tertiary Center of Republic of Moldavia.

Malformative uropathy in children is one of the most common pathological conditions, with an incidence of 5-14% in newborns. Recent research shows that even in the current conditions, they are often diagnosed only in the advanced stages, when Chronic Kidney Disease is already affirming. This study's objective is to identify urinary tract anomalies, including malformative uropathies in the prenatal stage, using imaging techniques, namely ultrasound of the pregnant uterus. Using prenatal ultrasonography of the pregnant uterus and postnatal clinical and paraclinical examination, we prospectively evaluated a cohort of fifty children with pyelectasia. We describe the demographic and pathological characteristics of patients diagnosed with renal-urinary abnormalities, as well as their postnatal management. A prenatal diagnosis made during the first 15 to 22 weeks of pregnancy enables the evaluation of early malformative uropathies and the determination of the best time to operate in order to minimize complications. When prenatal ultrasonography, fetal karyotype, tissue sample, and embryonic appendages work together, problems may be partially or entirely revealed by these methods due to mistakes made in imaging examinations. In the case of a pregnancy with an antenatal malformation detected, it is necessary for the delivery to take place in a clinic that can provide favorable services for the survival and investigation of the child born with malformative abnormalities.

Bridging the gap between neuroimaging and neurosurgery: a case of epidural arteriovenous fistula with an intradural presentation. Illustrative case.

Epidural arteriovenous fistulas (eAVFs) are rare vascular malformations often mistaken for their intradural counterparts due to similar angiographic features. Differentiation between epidural and intradural vascular lesions is crucial as it impacts surgical planning and prognosis. Despite advancements in diagnostic imaging, these entities can be misinterpreted and challenge management. The authors report the case of a 68-year-old male suspected to have a type I dural arteriovenous fistula based on magnetic resonance angiography and angiographic evaluation. He presented with progressive myelopathy and multiple neurological symptoms exacerbated by recent trauma. A superselective angiogram of the right T10 segmental artery suggested an intradural arteriovenous fistula; however, intraoperatively, the lesion was epidural. The arterialized venous structures were obliterated, and the patient reported significant postoperative symptomatic improvement. This case highlights the critical importance of comprehensive imaging and cautious interpretation in the diagnosis of spinal vascular malformations. It also underscores the need for a multidisciplinary approach to ensure accurate diagnosis and effective treatment. Surgeons must be prepared for intraoperative findings that diverge from preoperative imaging to adapt surgical strategies accordingly. Furthermore, this case contributes to the evolving understanding of eAVFs, suggesting that revised imaging protocols may be required to better distinguish epidural from intradural vascular abnormalities. https://thejns.org/doi/10.3171/CASE24331.

Histomorphometric and developmental analysis of human fetal caecum and appendix with its embryological significance

PurposeThe variable positions of the appendix can mislead surgeons and physicians to a wrong diagnosis. When appendicitis happens in subhepatic caecum, it can be misdiagnosed and can lead to severe complications during surgical procedures. Therefore, this study aimed to understand the histomorphometric development of the appendix and caecum and to identify when lymphoid follicles appear in the appendix during fetal life.MethodsThe study was conducted on a total of 50 fetuses. The caecum and appendix were carefully dissected. Their position and various measurements were observed. Afterwards, the appendix was taken out for histological processing. All three layers, mucosa, submucosa, and muscularis externa were measured using Image Analyzer Software Image Pro Premiere 9.1, and the appearance of lymphoid follicles was also examined. Results were analyzed using SPSS statistical software.ResultsDuring the 1st, 2nd, and 3rd trimesters the most common caecum type was type 1: as a lengthy tube, type 3: The lateral wall expanded more, thus it has an asymmetric saccule, and type 4: adult-like caecum. The caecum was mostly situated in the right lumbar region in the 2nd and 3rd trimesters. In the 1st trimester, it was subhepatic in position. The most common position of the appendix was 11 o’clock in 1st and 3rd trimesters. 2nd trimester’s most common position of the appendix was 12 o’clock. The thickness of the mucosa, submucosa, and the muscularis externa increases as the trimester increases. The lymphoid follicles have appeared during the 2nd trimester.ConclusionThe knowledge from this study will be useful in the diagnosis and treatment of malformations, pathology, and anomalies of the caecum and appendix due to congenital causes.

Diagnosis of rare tubular duplication small bowel malformation in adult woman by enteroscopy

Diagnosis of rare tubular duplication small bowel malformation in adult woman by enteroscopy

Role of Computed Tomography Angiography (CTA) In The Diagnosis Of Coronary Artery Anomalous Origins and Extracardiac Vascular Malformation Of Congenital Heart Disease In Pediatric Age Group

Role of Computed Tomography Angiography (CTA) In The Diagnosis Of Coronary Artery Anomalous Origins and Extracardiac Vascular Malformation Of Congenital Heart Disease In Pediatric Age Group

What Happens Post-Malone? An Investigation of Long-Term Postoperative Management of Antegrade Continence Enemas

BackgroundAn option for medically refractory fecal incontinence and/or constipation is the antegrade continence enema (ACE). We investigated ACE usage and its perceptions, including whether patients were able to discontinue use of the appendicostomy/cecostomy tube. MethodsPatients who underwent appendicostomy creation or cecostomy tube placement at two institutions between 2012 and 2021 were reviewed. Patients or parents/guardians were contacted for completion of a survey. Summary statistics for clinical data were tabulated and associations were evaluated with chi-square analysis. ResultsA total of 165 patients were included, including 92 (55.8%) males. Eighty-two (49.7%) surveys were completed. Most patients (51.5%) presented with fecal incontinence; 38 (23.3%) presented with constipation. More patients had a primary underlying diagnosis of anorectal malformation (39.4%), followed by functional constipation (21.2%), Hirschsprung disease (18.8%), and spinal malformation (17.6%). Thirty-six (21.8%) patients discontinued flushes by time of contact, with switch to laxatives being the most common reason (19%), followed by appendicostomy stricture/obstruction/closure (17%), switch to ileostomy/colostomy (17%), and patient preference (14%). There was no difference in patients’ ability to stop using flushes based on underlying diagnosis (p = 0.31). The majority (84.1%) of respondents were “very likely” to recommend antegrade enemas to other children with similar diagnosis and 76.8% reported being “very satisfied” that the operation was done. ConclusionsThere remains a high degree of satisfaction with antegrade continence enemas for children with constipation and fecal incontinence; some children may be able to stop using antegrade enemas with varied mechanisms including patient/family weaning versus with assistance and laxative trials. Type of StudyRetrospective cohort study. Level of EvidenceIII.

Clinical characteristics and risk factors for acute abdomen in patients with abdominal lymphatic malformations

ObjectiveThe diagnosis of abdominal lymphatic malformations (ALMs) is often overlooked in clinical practice. However, reports in the literature about ALMs are limited to case reports/series with small sample sizes. This study aimed to review our currently available data to describe the clinical characteristics of ALMs and evaluate the risk factors for acute abdomen caused by ALMs. MethodsWe reviewed the records of patients with ALMs who were diagnosed between December 2008 and January 2023 in our institution. The associations between acute abdomen and ALMs were analyzed based on single-factor and multivariate logistic regression analyses. ResultsThis study included 345 patients with pathologically confirmed ALMs, with a slight female predominance of 1:1.4. Approximately 39.1% (135/345) of patients were asymptomatic, and 24.6% (85/345) presented with acute abdomen. Among the ALMs in the cohort, 42.6% (147/345) were retroperitoneal lymphatic malformations (LMs). The maximal lesion dimensions in patients with acute abdomen and nonacute abdomen were 10.0 cm and 7.8 cm, respectively, with no significant difference based on multivariate analyses. Children were more likely to develop acute abdomen than adults were (P=0.002; odds ratio [OR], 5.128; 95% confidence interval [CI], 1.835-14.326). ALMs accompanying acute abdomen were more common for lesions involving the small intestinal mesentery (P=0.023; OR, 2.926; 95% CI, 1.157-7.400). ConclusionALMs are rare with insidious onset, and retroperitoneal LMs are the most common ALMs, followed by jejunal MLMs. Our retrospective analysis suggested that young age and small intestinal mesenteric lymphatic malformation are independent risk factors for acute abdomen with ALMs.

Sublabial transmaxillary approach to the inferior aspect of the orbit.

The objective was to demonstrate the surgical steps and outcomes of the sublabial transmaxillary microsurgical approach with endoscopic assistance to treat lesions in the inferior aspect of the orbit, as well as to describe the use of patient-specific 3D models to facilitate surgical preparation and improve experience with the technique. The authors' study evaluated data from patients who underwent an endoscope-assisted sublabial transmaxillary approach for inferior orbital lesions. For 2 patients, 3D models were created for preoperative planning and assessment of the approach. Surgical steps comprised osteotomy to access the maxillary sinus, bony resection of the orbital floor, opening of the periorbital fascia, and dissecting and removing the lesion, followed by closure. The neuroendoscope was used to inspect the surgical cavity between each step. The study included 5 patients with varying visual field defects and proptosis who underwent the sublabial transmaxillary microsurgical approach with endoscopic assistance. Complete resection was achieved in all, and all patients reported improvement in visual field defects and proptosis after the procedure. No complications were observed except for transient unilateral maxillary edema noted around the incision site in 3 patients during the early postoperative period, which resolved within a few days. Histopathological examination confirmed the diagnosis of cavernous malformation in all patients. The sublabial transmaxillary approach is a direct and safe method to resect cavernous malformations at the inferior aspect of the orbit. It reduces the risk of complications associated with lateral, transcranial, and transnasal approaches that may cross critical structures. The microsurgical approach provides the benefit of two-handed dissection for lesions embedded in orbital fat, which can be challenging because of adhesions to surrounding tissues. The use of 3D models can facilitate surgical planning and enhance familiarity with the approach.

Complex neural tube and skeletal malformations, resembling Chiari malformations, in two calves.

Two 1-day-old full-term female calves from different farms located in the Brazilian state of Rio Grande do Sul were unable to stand due to paresis of the pelvic limbs. Both calves had spina bifida on the spinal lumbar segment and were submitted to euthanasia due to poor prognosis. Postmortem examination revealed cerebellar herniation, caudal displacement of the brainstem, rostral deviation of the cranial nerves, caudal extension of occipital lobes, absence of dorsal lamina of lumbar vertebrae with exposed spinal cord, myelodysplasia, kyphosis, segmental spinal agenesis, renal fusion, muscular atrophy, and arthrogryposis. Histology highlighted myelodysplasia (syringomyelia and diplomyelia) and muscular atrophy. The reverse transcription-polymerase chain reactions for ruminant pestivirus were negative. Based on these lesions, the diagnosis of complex neural tube and skeletal malformations was made. A review of previous publications on calves diagnosed with these malformations, originally called Chiari or Arnold-Chiari malformations, revealed a wide range of nervous system and skeletal lesions. These variations amplified the uncertainty regarding whether all cases represent the same disorder and reinforced the importance of reconfiguring the terminology.

A new magnetic resonance imaging-based PUMCH classification system for congenital cervical malformations: devising a standardised diagnosis pathway

ObjectivesTo develop an innovative magnetic resonance imaging (MRI)-based PUMCH (Peking Union Medical College Hospital) classification system aimed at standardising the diagnosis of congenital cervical malformations (CCMs) by identifying their distinctive MRI features.MethodsSeventy-nine consecutive patients with CCM underwent pre-treatment pelvic MRI; three experienced gynaecological radiologists retrospectively analysed these images. Qualitative assessments included Rock et al’s classification; PUMCH classification; haematometra; cervical signal features; ovarian endometriosis; haematosalpinx; and uterine, vaginal, urinary, and musculoskeletal malformations. Quantitative assessments involved the uterine volume, sagittal cervical length, and maximum ovarian cross-sectional area. The surgical treatment types were also recorded. Statistical methods were used to incorporate differences in clinical features and surgical methods into our classification.ResultsMorphologically, CCMs were categorised into three types: type I (53%) was characterised by the presence of a cervix with visible cervical canals; type II (23%) featured an existing cervix with concealed cervical canals; and type III (24%) indicated cervical aplasia, which involves a blind end in the lower part of the uterine corpus. Haematometra was significantly more prevalent in patients with type I CCM than in those with type II (p < 0.001). There were three cervical signal patterns: no signal (27%), no evident layer differentiation (21%), and multi-layer differentiation with haematocele (52%). Most patients (94%) had complete vaginal atresia. Type I CCM patients had a higher likelihood of regaining normal uterovaginal anatomy compared to types II and III.ConclusionsOur proposed PUMCH classification system has a high potential for enhancing the efficiency of clinical diagnosis among patients with CCM.Critical relevance statementThe proposed new PUMCH classification promised to elevate the conventional diagnostic trajectory for congenital cervical malformations, offering a valuable framework to refine the selection and planning of surgical interventions, thereby enhancing overall clinical efficacy.Key PointsEffective classification of congenital cervical malformations is desirable to optimise the diagnostic process.We presented a PUMCH classification of congenital cervical malformations using pelvic MRI.The new classification significantly aids clinical triage for congenital cervical malformations.Graphical

Magnetic resonance imaging of fetal vascular malformations.

Vascular anomalies develop during fetal life and can be detected on prenatal ultrasonography and fetal magnetic resonance imaging. Diagnosis of lymphatic, venous, and arteriovenous malformations, as well as congenital hemangiomas and other congenital vascular tumors, may be challenging. The benign vascular anomalies may be difficult to differentiate from malignancies with a similar appearance. In this manuscript, we present a succinct overview of the congenital vascular anomalies that may present in fetal or neonatal life.

Surgical Management Of Congenital Thoracic Disorders: A 15-Year Center Experience.

Congenital thoracic disorders represent a spectrum of fetal lung bud development abnormalities, which may affect breathing capacity and quality of life. We aim to evaluate the impact of surgery in the treatment of 4 major congenital conditions. We performed a retrospective cohort analysis of patients who underwent surgical treatment in our tertiary center, from 2007 to 2022. Over the 15-year period, we treated 33 patients, with a male predominance of 55%. 22 patients (67%) were asymptomatic. When symptomatic, the recurrence of respiratory infections was the most common clinical presentation (18%). In 13 patients (39%), diagnosis was achieved through fetal ultrasonography. This study encompassed 13 patients with pulmonary sequestration (39%), 11 patients with bronchogenic cysts (33%), 7 patients with congenital pulmonary airway malformation (21%) and 2 patients with congenital lobar emphysema (6%). Considering solely lung malformation conditions, we accounted 22 patients with a median age of 3 [1-67] years-old. Surgery comprised bilobectomy (9%), lobectomy (77%), lobectomy with wedge resection (5%), segmentectomy (5%) and wedge resection (5%). Concerning bronchogenic cysts, we treated 11 patients with a median age of 19 [14-66] years-old. We identified 1 hilar, 1 intrapulmonary and 9 mediastinal lesions, of which 4 were paraesophageal, 4 were subcarinal and 1 was miscellaneous. Overall, surgery was conducted by thoracotomy in 61% of patients, VATS in 33% and RATS in 6%. The median drainage time was 3 [1-40] days and median hospital stay was 4 [1-41] days. There were no cases of mortality. Ensuing, 94% of patients experienced clinical improvement after surgery. Early diagnosis of congenital thoracic malformations increased considerably with the improvement in imaging technology and prenatal screening. Treatment may include expectant conservative treatment. However, in selected cases, surgery may play an important role in symptomatic control and prevention of disease progression.

Late diagnosis of anorectal malformation: how good is good enough?

PurposeNational data from the United Kingdom reported in 2016 have suggested that almost one quarter of babies with anorectal malformation (ARM) have a delay in diagnosis. The UK’s Newborn Infant Physical Examination dictates a perineal examination should be performed within 72 h of birth. We sought to describe a tertiary single-centre experience of late presentation in the most recent 5 years.MethodsA single-centre prospective registry of ARM patients (July 2018–March 2024) was analysed. Timing of presentation with anomaly was noted. Patients presenting > 72 h or having been discharged home were defined as a delayed diagnosis. Factors associated with delayed diagnosis were noted.ResultsSixty patients were included, of whom nine (15%) were diagnosed after 72 h [range 4–279 days]. This represents a non-significant improvement compared to 39/174 (22%) late diagnosed cases in the BAPS-CASS cohort from 2016 to 17 (p = 0.188). Presenting symptoms of obstruction (i.e. distension, vomiting, megarectum) were more common in late diagnosed patients (4/9 (44%) vs. 1/51(2%); p = 0.001). Anomalies producing meconium on the perineum were more likely to be diagnosed late (8/32 (25%) vs 1/28 (4%); p = 0.029). Complications and changes to clinical management for these cases are presented.ConclusionAlthough our regional rates of late diagnosis appear to be lower than previously reported national rates, there remains a significant number of infants who are diagnosed late especially those with visible perineal openings. These infants are more commonly symptomatic; entraining additional risks associated with an emergency presentation.

Classification, diagnosis, and treatment of low-flow congenital vascular malformations

Classification, diagnosis, and treatment of low-flow congenital vascular malformations

Diagnosis of vascular malformations: Clinical examination first, then molecular biology

Diagnosis of vascular malformations: Clinical examination first, then molecular biology

Unusual Cause of Hypoxemia During Pregnancy: New Diagnosis of Pulmonary Arteriovenous Malformations

Unusual Cause of Hypoxemia During Pregnancy: New Diagnosis of Pulmonary Arteriovenous Malformations