Pathologic Aerophagia in Patients with Intellectual Disability: A Review of its Pathophysiology, Clinical Features and Management

2016 ◽  
Vol 33 (S1) ◽  
pp. S477-S477
Author(s):  
S. Sajith ◽  
W. Wong
Keyword(s):  
Intellectual Disability ◽  
Clinical Features ◽  
Treatment Guidelines ◽  
Management Strategies ◽  
Case Series ◽  
Rare Condition ◽  
Abdominal Distension ◽  
Abdominal Radiograph ◽  
Limited Information ◽  
Behaviour Therapy

BackgroundPathologic aerophagia is characterised by excessive swallowing of air resulting in significant abdominal distension or belching. This is a relatively rare condition in general population but has been reported in up to 8.8% of institutionalized patients with intellectual disability (ID). In severe cases, this can cause volvulus and ileus, and even intestinal perforation. Currently, there is limited information on this potentially life-threatening condition, particularly for people with ID.AimTo review the up to date literature on the pathophysiology, clinical features and management strategies of pathologic aerophagia in relation to people with ID.MethodsA literature search of electronic database was performed using specific keywords. Review articles were selected using pre-defined criteria.ResultsApart from a few small controlled trials on pharmacotherapy, most of the studies were case series or uncontrolled studies. The understanding on pathophysiology is incomplete but is thought to involve a reflex-induced movement of upper oesophageal sphincter and may be associated with anxiety or stress. A comprehensive history and physical examination as well as an abdominal radiograph may be helpful in diagnosis. The mainstay of treatment is reassurance and behaviour therapy. Medications that are helpful include antacids, anti-reflux drugs and benzodiazepines. Surgical treatment is recommended for patients who do not respond to conservative treatment.ConclusionsPathologic aerophagia is not uncommon in people with ID and can present with severe challenges in the assessment and management. Further studies are necessary to provide evidence-based treatment guidelines for the management of this condition particularly in patients with ID.Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals Floating-Harbor syndrome: Presentation of the first Romanian patient with a SRCAP mutation and review of the literature

2018 ◽  
Vol 21 (1) ◽  
pp. 83-86
Author(s):  
M Budisteanu ◽  
N Bögershausen ◽  
SM Papuc ◽  
S Moosa ◽  
M Thoenes ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Short Stature ◽  
Clinical Features ◽  
Rare Condition ◽  
Bone Age ◽  
Speech Development ◽  
Speech Delay ◽  
Mild Intellectual Disability ◽  
Intensive Program ◽  
Floating Harbor Syndrome

Abstract Floating-Harbor syndrome (FHS) is a rare autosomal dominant syndrome characterized by short stature with delayed bone age, retarded speech development, intellectual disability and dysmorphic facial features. Recently, dominant mutations almost exclusively clustered in the final exon of the Snf2-related CREBBP activator protein (SRCAP) gene were identified to cause FHS. Here, we report a boy with short stature, speech delay, mild intellectual disability, dysmorphic features, and with genetically confirmed FHS. To the best of our knowledge, this is the first molecularly confirmed case with this syndrome reported in Romania. An intensive program of cognitive and speech stimulation, as well as yearly neurological, psychological, ophthalmological, otorhinolaryngological, pediatric and endocrinological monitoring for our patient were designed. We propose a checklist of clinical features suggestive of FHS, based on the main clinical features, in order to facilitate the diagnosis and clinical management of this rare condition.

scholarly journals The quintessence of breast leiomyosarcoma

2018 ◽  
Vol 5 (5) ◽  
pp. 1923
Author(s):  
Ashwini Kannamma Kalimuthu ◽  
Raja Senthil Viswanathan ◽  
Ponniah Iyyappan ◽  
Kaliyappa C.
Keyword(s):  
Clinical Features ◽  
Management Strategies ◽  
Rare Condition ◽  
Left Breast ◽  
Breast Tumours ◽  
Cystosarcoma Phyllodes ◽  
Clinicopathological Study ◽  
Trucut Biopsy ◽  
Biological Differences ◽  
Primary Leiomyosarcoma

Sarcoma of the breast is a rare condition. The biological differences from other primary breast tumours necessitate a corresponding difference in approach to diagnostic and management strategies. The rarity of the condition has made clinicopathological study difficult. Authors report a case of primary leiomyosarcoma in a 40-yr-old-women, with a 15x9 cm bosselated swelling, involving all 4 quadrants of the left breast. Her clinical features, sonography and trucut biopsy were compatible with cystosarcoma phyllodes and she underwent a left mastectomy for the same. Later the histological and imunohistochemical studies established the diagnosis of leiomyosarcoma, grade 2.

scholarly journals New Treatment Options for Pituitary Granulomatosis With Polyangiitis

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A594-A594
Author(s):  
Hessa Boharoon ◽  
Majid AlAmeri ◽  
Abdulla Mohamed Alnuaimi ◽  
Nigel Mendoza ◽  
Stephen McAdoo ◽  
...  
Keyword(s):  
Granulomatosis With Polyangiitis ◽  
Treatment Guidelines ◽  
Dynamic Assessment ◽  
Treatment Options ◽  
Case Series ◽  
Rare Condition ◽  
High Dose ◽  
Pituitary Mass ◽  
Remission Maintenance ◽  
History Of

Abstract Background: Granulomatosis with polyangiitis (GPA) rarely involves the pituitary gland and has been reported in 1% of all cases of GPA. Most frequently, it presents with pituitary mass effect and diabetes insipidus (DI). To date, there are no treatment guidelines for this rare condition. Case Presentation: Case 1: A 55 year old female with a history of ANCA-positive pulmonary GPA, previously treated with glucocorticoids and immunosuppressants, presented two years later with cranial DI and bitemporal hemianopia. MRI showed a large sellar mass with suprasellar extension. High dose glucocorticoids resulted in good clinical and radiological response. Further treatment consisted in a combination of Cyclophosphamide and Rituximab (RTX). Further doses of RTX are planned aiming for a period of B-cell depletion. Case 2: A 38 year old female, presented with polyuria, recurrent nosebleeds, headaches and a left visual field defect. Pituitary profile revealed ACTH deficiency and MRI showed a heterogenous cystic lesion with peripheral enhancement and stalk thickening. Steroid replacement led to immediate improvement in her symptoms. Cranial DI was confirmed and raised Proteinase 3 (PR3) antibody suggested GPA. A combination of prednisolone and Methotrexate led to significant improvement of MRI appearances and declining PR3 antibody levels. For remission maintenance, two cycles of RTX were given with further radiological and biochemical improvement, and, following dynamic assessment of her HPA axis, she could be fully weaned off steroids. Case 3 is a 47 year old female with a history of childhood asthma. She was found to have cavitating lung lesions. ANCA positivity confirmed GPA and she was commenced on high-dose steroids. During follow-up, she developed headache, polyuria and polydipsia. MRI pituitary showed a suprasellar lesion and pituitary biopsy revealed inflammatory hypophysitis. Cranial DI was confirmed by water deprivation testing. Previous allergic reactions to both RTX and Ofatumumab precluded anti-CD40 monoclonal antibodies and she was commenced on Azathioprine. A further recurrence of pituitary GPA necessitated escalation of the steroid dose and switch of azathioprine to mycophenolate mofetil. She remains in remission and her steroids reduced to a maintenance dose. Conclusion: GPA pituitary has been observed to occur at variable time after diagnosis often in the absence of any other systemic features. A combination of glucocorticoids and RTX has been approved for severe relapsing pulmonary GPA, however, limited data is available for pituitary GPA. In this case series, the response to high dose steroids and RTX for remission maintenance has been encouraging. Experience with ‘conventional’ immunosuppresants remains limited and therapeutic responses remain variable. Further clinical studies are required to establish effective treatment for pituitary GPA.

scholarly journals Intussusception in preterm neonates: A systematic review of a rare condition

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Mostafa Kotb ◽  
Mostafa Abdelatty ◽  
Hayssam Rashwan ◽  
Yasmine AbdelMeguid ◽  
Ahmed Elrouby
Keyword(s):  
Systematic Review ◽  
Neonatal Intensive Care ◽  
Case Reports ◽  
Case Series ◽  
Rare Condition ◽  
Abdominal Distension ◽  
Contrast Enema ◽  
Preterm Neonates ◽  
Lead Point ◽  
High Index Of Suspicion

Abstract Background While necrotizing enterocolitis (NEC) is a prevalent condition in preterm neonates admitted to neonatal intensive care unit (NICU), intussusception is exceedingly uncommon and often overlooked. This is due to the fact that they share many clinical characteristics. The initial misdiagnosis of intussusception in preterm neonates (IPN) especially has led to a delay in their management, which increases the risk of developing compromised bowel. Additionally, it is difficult to reach a diagnosis as neonatal intussusception does not have any classical radiological signs even when contrast enema is used. This systematic review is based on the published literature including case reports and case series to review the clinical features of IPN and how to differentiate it from NEC in order to shed the light on this rare disease and how having a high index of suspicion would help practitioners to make an early and accurate diagnosis Methods A systematic literature search to report all cases of relevant articles that reported IPN till date. All cases that were born before 37 weeks gestational age, presented within the neonatal period and having well established documentation were included in the study. Any case that did not have these criteria was excluded from our study. Results Only 52 cases met these criteria during the period from 1963 till date. An average of 10 days had elapsed before the cases were confirmed to have IPN either clinically or intraoperatively. The most frequent manifestations were abdominal distension and bilious gastric residuals, occurring in 85% and 77% of the cases respectively, followed by bloody stools in 43% of cases. However, this triad was present only in approximately one-third of the cases. Only 13 cases were diagnosed as having intussusception preoperatively. About two thirds of the intussusception were located in the ileum. Pathological lead point was present in 7 cases only; 4 of them were due to Meckel’s diverticulum. Nine cases only out of the 52 cases with IPN died. Conclusion It is crucial to detect the clues for diagnosis of intussusception because in contrast to NEC, it is unresponsive to conservative management, affects the viability of the bowel and surgery is essential.

scholarly journals CHRONIC BREAST INFECTIONS: CHALLENGING CONDITION TO DIAGNOSE AND TREAT; AN OVERVIEW OF 70 CASES

2021 ◽  
Vol 71 (2) ◽  
pp. 401-04
Author(s):  
Razia Bano ◽  
Sohail Saqib Chatha ◽  
Faiza Sana ◽  
Humaira Latif ◽  
Umar Farooq Chatha ◽  
...  
Keyword(s):  
Clinical Features ◽  
Clinical Presentation ◽  
Management Strategies ◽  
Case Series ◽  
Military Hospital ◽  
Granulomatous Mastitis ◽  
Idiopathic Granulomatous Mastitis ◽  
Diverse Range ◽  
Incision And Drainage ◽  
Common Clinical Presentation

Objective: To share our experience of clinical features and management strategies for treatment of chronic breast infections. Study Design: Case series. Place and Duration of Study: Combined Military Hospital Rawalpindi, from Feb 2016 to Feb 2018. Methodology: We prospectively enrolled patients with diagnosis of chronic breast infections over a period of two years. All patients with infections (less than one month old) were excluded from the study. We studied the demographic characteristics like age, clinical presentation, histopathological features, treatment given and response to the treatment. Results: A total of 70 patients were enrolled in the study. Patients age was between 21-75 years with mean age of 42 ± 5 years. Most common clinical presentation was lump and in duration with abscess in 23 (33%) cases, mass with discharging sinuses in 16 (23%) cases, while 7 (10%) cases had recurrent abscess. Diagnosis was made on core biopsy in 21 cases and in remaining cases with incision and drainage. Histopathology confirmed diagnosis of Idiopathic Granulomatous mastitis in 30 (43%) cases, acute on chronic mastitis in 27 (38%) and chronic granulomatous mastitis in 13 (18%) cases. Out of all cases 29 (41%) showed response to antibacterial treatment while 27 (38%) cases responded to anti tuberculous treatment. Spontaneous resolution occurred in 11 (16%) cases while 3 (4%) cases responded to antifungal treatment. Conclusion: Chronic breast infections are a challenging condition to diagnose and treat for breast surgeons and can present with diverse range of clinical features.

scholarly journals Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children

2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Rathika Damodara Shenoy ◽  
Vijaya Shenoy ◽  
Vikram Shetty
Keyword(s):  
Intellectual Disability ◽  
Clinical Features ◽  
Chromosomal Abnormalities ◽  
Case Series ◽  
Orofacial Cleft ◽  
Balanced Translocation ◽  
Orofacial Clefts ◽  
Emanuel Syndrome

This case series of three children reports clinical features and chromosomal abnormalities seen in a craniofacial clinic. All presented with orofacial cleft, developmental or intellectual disability, and dysmorphism. Emanuel syndrome or supernumerary der (22)t(11; 22), the prototype of complex small supernumerary marker disorders, was seen in one child. Duplication 4q27q35.2 with concomitant deletion 21q22.2q22.3 and duplication 12p13.33p13.32 with concomitant deletion 18q22.3q23 seen in the remaining two children are not reported in literature. Maternal balanced translocation was established in both of these children.

Clinicopathologic Features of Osteosarcoma in Patients With Rothmund-Thomson Syndrome

2007 ◽  
Vol 25 (4) ◽  
pp. 370-375 ◽  
Author(s):  
M. John Hicks ◽  
Jill R. Roth ◽  
Claudia A. Kozinetz ◽  
Lisa L. Wang
Keyword(s):  
Clinical Features ◽  
Treatment Guidelines ◽  
Gene Mutations ◽  
Rare Condition ◽  
Response To Therapy ◽  
Histologic Subtype ◽  
Institutional Review ◽  
Response To Chemotherapy ◽  
Increased Risk ◽  
Rothmund Thomson Syndrome

Purpose Patients with Rothmund-Thomson syndrome (RTS) and RECQL4 gene mutations have an increased risk of developing osteosarcoma (OS). Because RTS is considered a genomic instability syndrome, patients may experience increased toxicity with chemotherapy. The purpose of this study was to summarize the clinical features and response to therapy of OS in patients with RTS. The results of this analysis will help to define treatment guidelines for this complex and rare condition. Patients and Methods An international cohort of patients with RTS and OS was enrolled in an institutional review board–approved study at Baylor College of Medicine (Houston, TX). Medical records were reviewed, and the following information was extracted: clinical features, treatment, pathologic findings, and clinical outcome. Results The median age at diagnosis of OS for the 12 patients was 10 years. The most common primary tumor sites were the long bones (femur, tibia); the most frequent histologic subtype was conventional OS. Histologic response to chemotherapy and outcome were similar to other published large series of sporadic OS. Eight patients are alive and disease free; four died as a result of cancer. Five patients required chemotherapy dose modifications, most commonly due to mucositis from doxorubicin. Conclusion Our results indicate that patients with RTS and OS are younger, but that their clinical behavior is similar to patients with sporadic OS. Our report suggests that these patients should initially be treated with conventional doses of chemotherapy as prescribed by current protocols; however, cautious and careful clinical observation is warranted to monitor for enhanced doxorubicin sensitivity in patients with RTS.

Reversal of DIRECT-ACTING Oral Anticoagulants in Urgent Surgery of the Proximal Aorta: case Series and Review of the literature

2019 ◽  
Vol 24 (38) ◽  
pp. 4534-4539 ◽  
Author(s):  
Eric Zimmermann ◽  
Fawzi Ameer ◽  
Berhane Worku ◽  
Dimitrios Avgerinos
Keyword(s):  
Oral Anticoagulants ◽  
Aortic Surgery ◽  
Management Strategies ◽  
Case Series ◽  
Published Data ◽  
Review Of Literature ◽  
Clotting Factors ◽  
Urgent Surgery ◽  
Direct Acting ◽  
Direct Acting Oral Anticoagulants

Introduction: Proximal aorta interventions impose significant bleeding risk. Patients on concomitant anticoagulation regimens compound the risk of bleeding in any surgery, but especially cardiothoracic interventions. The employment of direct-acting oral anticoagulants (DOAC), namely those that target clotting factors II or X, has expanded at a precipitous rate over the last decade. The emergence of their reversal agents has followed slowly, leaving clinicians with management dilemmas in urgent surgery. We discuss current reversal strategies based on the available published data and our experience with proximal aortic surgery in patients taking DOACs. Literature Search: We performed a review of literature and present three cases from our experience to offer insight into management strategies that have been historically successful. A review of literature was conducted via PubMed with the following search string: (NOAC or DOAC or TSOAC) and (aorta or aortic or (Stanford and type and a)). Case Presentation: We present three case presentations that illustrate the importance of DOAC identification and offer management strategies in mitigating associated bleeding risks in urgent or emergent surgeries. Conclusion: Treatment teams should be aware of the technical limitations of identifying and reversing DOACs. In view of the tendency toward publishing positive outcomes, more scientific rigor is required in the area of emergency DOAC reversal strategies.

scholarly journals Clinical features and predictors of severity in COVID-19 patients with critical illness in Singapore

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ser Hon Puah ◽  
◽  
Barnaby Edward Young ◽  
Po Ying Chia ◽  
Vui Kian Ho ◽  
...  
Keyword(s):  
Mechanical Ventilation ◽  
Clinical Features ◽  
Operating Characteristic ◽  
Characteristic Curve ◽  
Case Series ◽  
Plateau Pressure ◽  
Apache Ii Score ◽  
Multivariable Logistic Regression Model ◽  
Reactive Protein ◽  
Ventilatory Management

AbstractWe aim to describe a case series of critically and non-critically ill COVID-19 patients in Singapore. This was a multicentered prospective study with clinical and laboratory details. Details for fifty uncomplicated COVID-19 patients and ten who required mechanical ventilation were collected. We compared clinical features between the groups, assessed predictors of intubation, and described ventilatory management in ICU patients. Ventilated patients were significantly older, reported more dyspnea, had elevated C-reactive protein and lactate dehydrogenase. A multivariable logistic regression model identified respiratory rate (aOR 2.83, 95% CI 1.24–6.47) and neutrophil count (aOR 2.39, 95% CI 1.34–4.26) on admission as independent predictors of intubation with area under receiver operating characteristic curve of 0.928 (95% CI 0.828–0.979). Median APACHE II score was 19 (IQR 17–22) and PaO2/FiO2 ratio before intubation was 104 (IQR 89–129). Median peak FiO2 was 0.75 (IQR 0.6–1.0), positive end-expiratory pressure 12 (IQR 10–14) and plateau pressure 22 (IQR 18–26) in the first 24 h of ventilation. Median duration of ventilation was 6.5 days (IQR 5.5–13). There were no fatalities. Most COVID-19 patients in Singapore who required mechanical ventilation because of ARDS were extubated with no mortality.

scholarly journals Composite phaeochromocytomas—a systematic review of published literature

2021 ◽  
Author(s):  
K. Dhanasekar ◽  
V. Visakan ◽  
F. Tahir ◽  
S. P. Balasubramanian
Keyword(s):  
Case Reports ◽  
Descriptive Analysis ◽  
Management Strategies ◽  
Gastrointestinal Symptoms ◽  
Rare Condition ◽  
Epidemiological Data ◽  
Human Case ◽  
Rare Tumour ◽  
Palpable Mass

Abstract Introduction Composite phaeochromocytoma is a tumour containing a separate tumour of neuronal origin in addition to a chromaffin cell tumour. This study reports on two cases from a single centre’s records and presents a systematic literature review of composite phaeochromocytomas. Methods In addition to describing 2 case reports, a systematic search of the Medline database from inception up to April 2020 was done for human case reports on composite phaeochromocytomas. Relevant titles and/or abstracts were screened, and full texts were reviewed to identify appropriate studies. Data was extracted and a descriptive analysis of presentation, clinical features, management strategies and outcomes was performed. The quality of included studies was assessed using a critical appraisal checklist. Results There were 62 studies included, with a total of 94 patients. Of 91 patients where data was available, the median (range) age of patients was 48 (4–86) years. Of 90 patients where information was provided, 57% were female. In at least 28% of patients, a genetic cause was identified. Common presenting features include abdominal pain, palpable mass, cardiovascular and gastrointestinal symptoms. The most common tumour component with phaeochromocytoma is ganglioneuroma; other components include ganglioneuroblastoma, neuroblastoma and malignant peripheral nerve sheath tumours. In patients with follow-up data (n=48), 85% of patients were alive and well at a median (range) follow-up time of 18 (0.5–168) months. Conclusion Composite phaeochromocytoma is a rare tumour, with a significant genetic predisposition. This review summarises available epidemiological data, which will be useful for clinicians managing this rare condition.

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