Case Series Reports Research Articles

Clinical and neurobehavioral phenotype in children with autism and intragenic copy number duplications in CNTN4: Case series report

Copy Number Variation (CNV) of contactin genes (CNTNs) - CNTN3, CNTN4, CNTN5, and CNTN6 - have been associated with various neurodevelopmental disorders, including Autism Spectrum Disorder (ASD). However, the literature on the associated phenotypes to specific copy number variants of these genes is still scarce. Therefore, limiting clinicians' and researchers' understanding of the impact of these CNVs makes genetic counselling regarding recurrence risks more challenging. In this study, we report on five patients with rare CNVs involving the CNTN4 gene and the associated clinical and neurobehavioral phenotype. Overall, the patients exhibited stereotypic motor symptoms, including finger and hand mannerisms (4/5), and repetitive use of objects (4/5), as well as sensory symptoms, including unusual sensory interests or hypersensitivity (4/5). One child of the cohort had epilepsy, and (4/5) had Intellectual Disability. All cases fulfilled DSM-5 criteria for diagnosis of Autism Spectrum Disorder (ASD). However, larger cohorts are needed for unbiased characterization of the phenotypic features associated with the genetic variations in CNTN4.

Pulmonary Cavitation as a Complication of COVID-19: Case Series and a Brief Review of the Literature

The COVID-19 pandemic has led to an unprecedented surge in respiratory illness cases worldwide. Although uncommon, pulmonary cavitation has been reported as a potential complication of COVID-19. This case series report describes four cases of COVID-19 patients with lung cavities, highlighting the various causes and clinical manifestations of this complication, and a review of the literature on the presence of lung cavities in COVID-19 patients. In two cases, the cavities were most likely due to secondary bacterial superinfections, with one case being complicated by multi-drug-resistant bacteria. Another case developed cavities secondary to a fungal infection, while the third case was directly caused by SARS-CoV-2 invasion in the lungs. The presence of cavities with or without air-fluid level or pneumothorax in COVID-19 patients should be considered as a potential complication of this infection, especially in those with respiratory symptoms. Physicians should remain vigilant for the development of pulmonary cavitation in COVID-19 patients, particularly those receiving high doses of steroids. Additionally, spontaneous pneumothorax should be considered an alarming sign in COVID-19 patients.

Corona-Associated Mucormycosis: Case Series Reports and Review of the Literature.

During the COVID-19 pandemic, a significant increase in cases of mucormycosis was observed in COVID-19 patients, especially in India, but not exclusively. The presented cases highlight the heterogeneous nature of mucormycosis, emphasizing the importance of recognizing predisposing factors, such as immunosuppression, due to comorbidities or medication. Diagnosing mucormycosis poses a challenge due to nonspecific clinical manifestations, requiring a multidisciplinary approach for accurate diagnosis. Treatment involves a multi-pronged approach centered around the early initiation of antifungal therapy alongside surgical intervention and the management of underlying conditions, with an emphasis on controlling immunosuppression. Understanding the relationship between COVID-19 and predisposing factors for mucormycosis is fundamental for developing prevention and treatment strategies.

Rituximab in non-systemic vasculitic neuropathy: a single-center experience

ObjectivesThis case series reports clinical features and outcome of four patients with non-systemic vasculitic neuropathy (NSVN) treated with the anti-CD20 agent rituximab.MethodsClinical, electrophysiological and biopsy data were retrospectively obtained and evaluated. Only patients with pathological definite or probable NSVN were included. Extensive clinical and laboratory work-up excluded systemic vasculitis. Follow-up data for at least 12 months and up to five years is provided. Outcome of the patients was assessed using the MRC-Sum Score, Prineas Score and Neurological Symptom Score.ResultsTwo of four patients treated with rituximab achieved disease remission and one patient remained stable under anti-CD20 therapy after a required treatment switch due to toxic side effects of cyclophosphamide. One patient deteriorated under rituximab induction. Rituximab was well tolerated in all patients.DiscussionAnti-CD20 therapy might be an alternative in NSVN patients requiring further treatment escalation or treatment switch due to side effects of corticosteroids or cyclophosphamide.

Squamous cell carcinoma initially occurring on the tongue dorsum: a case series report with molecular analysis

BackgroundSquamous cell carcinoma (SCC) of the dorsum of the tongue is extremely rare, and it clinically resembles various benign lesions. Somatic mutations in TP53 and some driver genes were implicated in the development of SCC; however, the somatic genetic characteristics of dorsal tongue SCC remain unknown. With a detailed analysis of gene mutations in dorsal tongue SCC, we aimed to better understand its biology.MethodsFour cases of SCC initially occurring on the tongue dorsum were evaluated for clinical and histological findings and immunohistochemical expression of p53 and p16. Gene mutations were analyzed using next-generation sequencing with a custom panel of driver genes.ResultsWe retrospectively investigated 557 cases of tongue SCC, and only four cases of SCC initially occurred on the tongue dorsum. The four patients (cases 1–4) were one woman and three men with a mean age of 53.75 years (range: 15–74 years). Histological analysis revealed well-differentiated SCC. Through molecular analysis, we identified pathogenic somatic mutations, namely, TP53 p.C176F (c.527G > T) in case 3 and TP53 p.R282W (c.844 C > T) in case 4. No pathogenic variants were identified in the PI3K/AKT or RAS/RAF pathways. The p53 immunohistochemical examination revealed a wild-type expression pattern in cases 1–3 and strong expression in case 4. The results of p16 immunostaining were negative in all cases.ConclusionsWe described four previously unreported genetic characteristics of dorsal tongue SCC. Somatic TP53 mutations may contribute to the development of a subset of dorsal tongue SCC; however, more cases with genetic analysis need to be accumulated.

Subperiosteal implants constructed with digital technology: A systematic review.

Atrophied jaw is a condition where there is insufficient bone quantity and quality. Several treatment plans are available for treating atrophied jaws, including subperiosteal implants. To evaluate the spectrum of subperiosteal implants for severely atrophied jaws using digital technology. An electronic and manual search was conducted in the PubMed, Scopus, and Google Scholar databases. Publications of cohort studies,case series, and case reports written in English without data restrictions that reported on subperiosteal implant management of patients with severely atrophied jaws in a completely and partially edentulous population. A total of 26 articles, comprising 302 cases, were analyzed. In patients with severely atrophied jaws. The success rate was 87.7%, the surviving rate was 95.3%. The most common complications were biological, such as dehiscence and framework exposure. The rates of biologic complications were 11.5%, and the rates of prosthetic problems were 5.9%. Subperiosteal implants designed and constructed using digital technology are a promising treatment in the short term. Attention should be directed to decrease the biological complication. Correct designing, implanting, fixing, and patient selection and maintenance are critical for the success of the treatment. Longer prospective studies with larger population are needed to view the effect on hard and soft tissue.

Acute Pancreatitis Secondary to Cocaine Intoxication: A Case Series.

Gallstones, alcohol use, hypertriglyceridemia, and hypercalcemia have been considered the most common causes of acute pancreatitis; however, about 20% of the cases remain idiopathic since no definite cause can be established. It has been noticed that there is a small number of patients who have presented to the hospital with a diagnosis of acute pancreatitis who have concurrently been using cocaine yet have no recent alcohol use and no gallstones. The purpose of this series of case reports is to review the evidence behind the association between cocaine and pancreatitis. In most of the cases, the etiology of acute pancreatitis is usually straightforward.However, when faced with a patient who has acute pancreatitis but lacks the common causes such as alcoholism, gallstones, normal triglyceride levels, and no evidence of malignancy, it seems reasonable to consider drugs as a potential cause for pancreatitis.

Case series on amelogenesis imperfecta in young patients

There are multiple challenges in treating patients with amelogenesis imperfecta (AI). When we think about pediatric patients, this becomes much more obvious. This case series report addresses different case reports of pediatric patients who present with imperfect amelogenesis. Patients with type I hypoplastic amelogenesis imperfecta, hypomaturation type amelogenesis imperfecta, and sporadic hypoplastic and hypomaturation type amelogenesis imperfecta were identified as cases I, II, and III, respectively. This case series has covered several therapies

Human Leucocyte Antigen Genetics in Idiosyncratic Drug-Induced Liver Injury with Evidence Based on the Roussel Uclaf Causality Assessment Method.

The human leucocyte antigen (HLA) allele variability was studied in cohorts of patients with idiosyncratic drug-induced liver injury (iDILI). Some reports showed an association between HLA genetics and iDILI, proposing HLA alleles as a potential risk factor for the liver injury. However, the strength of such assumptions heavily depends on the quality of the iDILI diagnosis, calling for a thorough analysis. Using the PubMed database and Google Science, a total of 25 reports of case series or single cases were retrieved using the terms HLA genes and iDILI. It turned out that in 10/25 reports (40%), HLA genetics were determined in iDILI cases, for which no causality assessment method (CAM) was used or a non-validated tool was applied, meaning the findings were based on subjective opinion, providing disputable results and hence not scoring individual key elements. By contrast, in most iDILI reports (60%), the Roussel Uclaf Causality Assessment Method (RUCAM) was applied, which is the diagnostic algorithm preferred worldwide to assess causality in iDILI cases and represents a quantitative, objective tool that has been well validated by both internal and external DILI experts. The RUCAM provided evidence-based results concerning liver injury by 1 drug class (antituberculotics + antiretrovirals) and 19 different drugs, comprising 900 iDILI cases. Among the top-ranking drugs were amoxicillin-clavulanate (290 cases, HLA A*02:01 or HLA A*30:02), followed by flucloxacillin (255 cases, HLA B*57:01), trimethoprim-sulfamethoxazole (86 cases, HLA B*14:01 or HLA B*14:02), methimazole (40 cases, HLA C*03:02), carbamazepine (29 cases, HLA A*31:01), and nitrofurantoin (26 cases, HLA A*33:01). In conclusion, the HLA genetics in 900 idiosyncratic drug-induced liver injury cases with evidence based on the RUCAM are available for studying the mechanistic steps leading to the injury, including metabolic factors through cytochrome P450 isoforms and processes that activate the innate immune system to the adaptive immune system.

Case series of peripherally inserted central catheter insertion in young children: A new approach to the axillary vein.

We have developed a new approach for peripherally inserted central catheter (PICC) insertion that we think has several advantages, including ease of insertion, access to a larger vein and patient comfort. In this case series report, the first 19 cases were audited. All PICCs were inserted without complications; 17 on the first attempt. We conclude that the novel approach to the axillary vein for PICC insertion is feasible and appears to be safe when performed by an experienced operator.

WCN24-1960 Membranous glomerulonephritis with unusual C3 deposits: case series report

WCN24-1960 Membranous glomerulonephritis with unusual C3 deposits: case series report

Esophageal carcinoma with SMARCA4 mutation: a narrative review for this rare entity.

Esophageal carcinoma with switch/sucrose nonfermenting (SWI/SNF)-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4 (SMARCA4) mutation is a rare variant of malignant esophageal epithelial neoplasm, which is characterized by the loss of SMARCA4/BRG1 protein on immunohistochemistry or alterations in the SMARCA4 gene on sequencing. Only a few case series and case reports of esophageal carcinoma with SMARCA4 mutations have been published in the English literature; the rarity of the disease poses significant diagnostic challenges for surgical pathologists and could potentially lead to delayed or suboptimal patient care. Herein, we reviewed the available literature on esophageal carcinoma with SMARCA4 mutations to discuss its epidemiology, clinical presentation, pathological and molecular features, diagnostic challenges, treatment, and prognosis. The PubMed, Scopus, Ovid, and Google Scholar databases were extensively reviewed. The references included in the articles were cross-examined to identify any missing articles. We searched for all published literature on esophageal carcinoma with SMARCA4 mutations from inception of the databases to date. Esophageal carcinoma with SMARCA4 mutations is most common in middle-aged and older men. Barrett esophagus and gastroesophageal reflux disease (GERD) are the most associated risk factors. Dysphagia was the most common initial clinical presentation. Esophagogastroduodenoscopy (EGD) is the preferred diagnostic modality. Microscopically, the tumor cells exhibited epithelioid features mixed with variable components of rhabdoid and glandular differentiation. The tumor cells showed variable immunoreactivity for cytokeratin and sometimes weakly expressed neuroendocrine or B-lymphocyte markers (Pax5), which are potential diagnostic pitfalls. Melanoma marker tests showed negative results. The SMARCB1/INI1 protein remains intact, and a definitive diagnosis necessitates the presence of either SMARCA4/BRG1 protein loss or SMARCA4 gene mutations. Esophageal carcinoma with SMARCA4 mutations shows overly aggressive behavior and presents with advanced stages of disease; most patients succumb to the disease within 1 year of initial diagnosis. Esophageal carcinoma with SMARCA4 mutation is an overly aggressive disease, and further research on the affected molecular pathway may help improve its prognosis.

Robotic Heller's cardiomyotomy for achalasia: early outcomes for a high-volume UK centre.

Heller's cardiomyotomy (HCM) is the gold standard treatment for achalasia. Laparoscopic HCM has been shown to be effective with low rates of symptom recurrence, though oesophageal mucosal perforation rates remain high. The aim of this prospective case series is to assess the short-term complication rates and perioperative outcomes for the first cohort of patients undergoing robotic-assisted HCM for achalasia in a single high-volume UK centre. Data were collected from a prospective cohort of patients who underwent robotic HCM at a single high-volume UK centre. Outcomes were assessed using the Eckhard score, which was calculated after their routine postoperative clinic appointments. Thirteen patients underwent robotic HCM during the study period; this is the second largest reported case series in the European literature. There were no intraoperative oesophageal perforations. Six patients were discharged as day cases, six patients were discharged on the first postoperative day and one patient's hospital stay was two nights. There was a single perioperative complication of urinary retention. All patients reported improvement of symptoms following their operation, and all had a postoperative Eckhard score of less than 3, indicating their achalasia was in remission. This cohort has demonstrated that robotic HCM has an exceptional safety profile and results in high levels of symptom resolution, even early in the learning curve. The robotic approach may be superior to laparoscopy as it allows more precise identification and dissection of the oesophageal muscle fibres, which likely reduces the risk of inadvertent mucosal damage or incomplete myotomy.

Hybrid Orthodontics for Aesthetic Deep Bite Correction—Case Series and General Clinical Considerations

Background: A range of psychosocial and aesthetic factors motivate patients to undergo orthodontic treatment. The appliance choice depends not only on the type of malocclusion, but also on the aesthetic and functional demands of the patients themselves. Nowadays, digital planning enables the manufacture of individualised and customised orthodontic appliances. However, the predictability of movements with aligner treatment has long been under discussion. This article illustrates, through a series of case reports, how a hybrid approach combining individualised aesthetic orthodontic appliances can improve the predictability of tooth movements, thereby providing additional tools for clinicians charged with choosing the best indicated and biomechanically advantageous technique. To this end, three patients with different malocclusions were treated via a hybrid approach involving clear aligners in the upper arch followed by lingual fixed appliances in the upper and lower arches. All patients were treated using ALIAS lingual PSL 0.018 × 0.018-inch slot brackets and in-house 3D-printed aligners. Findings: The hybrid approach combining aligners and fixed lingual appliances led to the successful resolution of all three complex cases in the series without prolonging treatment time. The superimpositions demonstrate the predictability of even traditionally difficult movements. In particular, the Alias PSL lingual system, used from the beginning, enabled good control of both the torque and inclination of the lower incisors. Conclusions: Combining clear aligners and fixed lingual appliances provides a highly efficient means of treating malocclusions aesthetically. In our cases, the aligners offset the lack of bite-plate effect from the lingual brackets and appliances, providing advantageous biomechanics for rotation correction and control of tip, torque and root movements. Understanding how to exploit the strengths of each appliance enables the clinician to treat adult patients efficaciously, efficiently and aesthetically.

Triplane technique for breast reconstruction after breast cancer surgery: A case series report.

Implant-based breast reconstruction is an important method for post-mastectomy breast reconstruction. Currently, the most commonly used technique is the biplane technique. However, the high rate of postoperative complications, the inability of pockets to accommodate larger implants, and the expensive costs of biological mesh make the development of new surgical methods urgent. The triplane technique for breast reconstruction is an ideal candidate method. The main local symptoms were breast lump, abnormal breast skin, nipple discharge, and abnormal nipple or areola in 24 patients. The study included 24 female patients who underwent breast reconstruction using the triplane technique after radical breast cancer surgery. The surgical procedure involved measuring the dimensions of the breast, designing the incision, and creating a pocket for the implant using the triplane technique, which includes the pectoralis major muscle, the pectoralis major fascia continuing to the rectus abdominis fascia, and the latissimus dorsa muscle fascia continuing to the rectus abdominis fascia. Postoperative follow-up included regular assessments of pain and evaluation of breast appearance. No cases of postoperative infection were observed in all patients. During the 1-year follow-up period after surgery, 5 patients (20.8%) who needed radiotherapy after mastectomy for cancer showed slight darkening of skin flap pigment after using the triplane technique implant. No cases of exposure or infection of the expanders were reported, and 1 patient underwent expander replacement with a permanent prosthesis. All patients expressed satisfaction with the reconstructed breast shape. The 10 patients (41.7%) experiencing postoperative swelling and pain. However, the pain gradually subsided during the postoperative recovery period. No cases of local recurrence or distant metastasis of breast cancer were observed during the 1-year-follow-up period. The triplane technique for breast reconstruction after breast cancer surgery provides good implant coverage, reduces the risk of complications, and is cost-effective.

Management of canine wounds using platelet-rich fibrin (PRF) biomaterial. A case series report.

The increasing interest in platelet-based therapies has underwritten the development of novel veterinary regenerative treatments. The haemoderivative platelet-rich fibrin (PRF) comprises abundant concentrations of platelets and leucocytes, above the physiologic baseline, which are considered essential elements for wound regeneration, stimulating local angiogenesis, cellular migration, proliferation and differentiation, considered essential for skin repair. This study aimed to describe the treatment of eight dogs with naturally occurring cutaneous wounds, where autologous PRF therapy was applied, using a protocol developed by our group. Eight dogs, aged between 7-month and 9-year old, from different breeds and sexes, were enrolled in this study. Four of these wounds were clinically infected. In three cases, two PRF treatments were performed during the first week of treatment, followed by single weekly treatments from the second week onwards, until exophytic granulation tissues were present. In each case, the treatment was finalized only when complete wound closure was achieved. Wounds did not receive topical antiseptics, antibiotics or topical drugs to promote wound healing during the treatment. PRF-grafting treatments were well tolerated in all treated wounds, inducing significant granulation tissue formation. PRF clots acted as a natural tissue filler, promoting epithelization and wound closure, without the requirement of topical antimicrobial/antiseptics application, or additional surgical debridement. Evident skin contraction was recorded in larger injuries and all the treatments resulted in vestigial aesthetic scars where hair growth was also observed. PRF-therapy obtained promising results, as an alternative wound treatment, revealing a biological regenerative action, prompting the natural skin healing process.

Primary bone solitary B-cell lymphoblastic lymphoma aberrant expression Fli-1 and ERG: A case report.

Primary non-Hodgkin bone lymphoma is a rare disease, and within this category, B-cell lymphoblastic lymphoma (B-LBL) is an even rare clinical entity that has only been reported in small case series or individual case reports. B-LBL can mimic Ewing's sarcoma both clinically and histologically, leading to misdiagnosis. We present a case of primary B-LBL of the bone in a 7-year-old girl. The tumor cells are uniform and small with a diffuse and infiltrative growth pattern similar to EWS. Immunohistochemical results are positive for CD99, Fli-1, ERG, TDT, PAX5, and CD79α, but negative for leukocyte common antigen, CD3, CD20, and NKX2.2. No other lesions are found on positron emission tomography/computed tomography imaging. Finally, primary solitary bone B-LBL of the right tibia was diagnosed.

Dealing with early complications in unicondylar knee arthroplasty-what works, what does not?

Complications in the early postoperative period following the implantation of aunicondylar knee arthroplasty (UKA) are both rare and rarely described in the literature. Often, only small case series or individual case reports are available. In this article, the most common complications of periprosthetic infection, periprosthetic tibial fracture, inlay dislocation and intra-articular cement residue in (loose bone cement body) are described and recommendations for conservative and surgical treatment are presented, including case examples. Ideally, surgical errors or an infection should be recognized at an early stage and revised as soon as possible.

Single-centre case series report of regional anaesthesia for pain management in vaso-occlusive crisis.

Sickle cell disease is characterised by episodes of vaso-occlusive crisis, a painful complication. Regional anaesthesia has shown promising results in reducing opioid consumption and pain scores. Patients with vaso-occlusive crises who underwent regional anaesthesia in the paediatric intensive care unit were studied. Data regarding pain location, regional analgesia technique, the local anaesthetic used and dose, daily opioid consumption, daily pain scores, use of adjuvants and complications were recorded. The primary outcome was to evaluate the effect of regional anaesthesia on opioid consumption. In this study, we describe 10 cases, referring to six paediatric patients with the vaso-occlusive crisis who underwent regional anaesthesia for severe pain and were unresponsive to increasing doses of opioids. Six cases received epidural analgesia, three continuous peripheral nerve blocks and one received both techniques. Opioid consumption was reduced (58%), and pain scores decreased (72%), both statistically significant reductions.

The Influence of Root Prominence on the Onset of Gingival Recession: A Systematic Review

This systematic review aimed to identify, evaluate, and summarize the results of relevant studies on radicular prominence and its relationship with gingival recessions. This review was conducted according to the PRISMA (Preferred Reporting Reviews and Meta-Analysis) guidelines, and the focused PICO question was “In teeth with vestibular site-specific root or alveolar bone prominence, what are the chances that this will lead to gingival recession or difficulty in root coverage procedures, compared to teeth correctly positioned in the alveolar bone or without anatomical root prominence?”. A search was carried out on three databases: Embase, PubMed/MedLine, and Wiley Library. This initial search was complemented with manual research. It included any clinical study, such as a randomized clinical trial, controlled clinical trial, prospective/retrospective clinical study, case series, or case report, published in English from January 2012 to December 2023, which reported any involvement of the root/bone prominence approach. The exclusion criteria were clinical studies without report results/details of the case(s), studies based on questionnaires, editorial letters, any review, in vitro/in silica and animal studies, and interviews. The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement was applied for quality assessment. A total of 163 articles were found, but only three articles were included (k = 0.98). The included studies observed negative correlations when comparing the variables root prominence with linear root coverage, root surface area covered, and linear tissue thickness gain. It suggested a significant reduction in root coverage for prominences greater than 1 mm; therefore, relevant keratinized tissue gains can be achieved in gingival recession treatment after the application of the odontoplasty. The STROBE checklist evaluated 22 items, and all the included studies had a high-quality assessment (greater than 75%) with values greater than 85%. Then, it was not possible to draw conclusions due to the number of articles included, even though they had high-quality assessments. Otherwise, it is possible to suggest that the root prominence may impact gingival recession. Therefore, new and well-designed studies must be developed to establish a significant conclusion about this condition.