scholarly journals Tracheal agenesis in a new born: lessons learnt

2018 ◽  
pp. bcr-2017-224003
Author(s):  
P Naina ◽  
Mary John ◽  
Mohamed Abdul Kathar ◽  
Manish Kumar
Keyword(s):  
Clinical Presentation ◽  
Treatment Options ◽  
Correct Diagnosis ◽  
Rare Condition ◽  
Potential Treatment ◽  
Tracheal Agenesis ◽  
Future Studies ◽  
Optimal Replacement ◽  
Emergency Tracheostomy

Tracheal agenesis is a rare but fatal congenital tracheal malformation. Lack of prenatal symptom and a typical clinical presentation lead to failure to arrive at a correct diagnosis and confusion during resuscitation. We report a case of a newborn male child with type 2 tracheal agenesis. Despite a typical presentation, diagnosis was delayed after unsuccessful intubation, examination under anaesthesia and emergency tracheostomy. The embryology, diagnostic criteria and potential treatment options are discussed. This case report is valuable in increasing awareness of this rare condition and will help us in being better prepared in managing these children. Future studies should aim to find the optimal replacement for the tracheal.

Maturity-Onset Diabetes of the Young (MODY): Genetic Causes, Clinical Characteristics, Considerations for Testing, and Treatment Options

Endocrines ◽  
2021 ◽  
Vol 2 (4) ◽  
pp. 485-501
Author(s):  
Zoltan Antal
Keyword(s):  
Clinical Presentation ◽  
Clinical Symptoms ◽  
Treatment Options ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes ◽  
Inappropriate Treatment ◽  
Monogenic Forms Of Diabetes ◽  
Initial Description

Maturity Onset Diabetes of the Young (MODY) encompasses a group of rare monogenic forms of diabetes distinct in etiology and clinical presentation from the more common forms of Type 1 (autoimmune) and Type 2 diabetes. Since its initial description as a clinical entity nearly 50 years ago, the underlying genetic basis for the various forms of MODY has been increasingly better elucidated. Clinically, the diagnosis may be made in childhood or young adulthood and can present as overt hyperglycemia requiring insulin therapy or as a subtle form of slowly progressive glucose impairment. Due to the heterogeneity of clinical symptoms, patients with MODY may be misdiagnosed as possessing another form of diabetes, resulting in potentially inappropriate treatment and delays in screening of affected family members and associated comorbidities. In this review, we highlight the various known genetic mutations associated with MODY, clinical presentation, indications for testing, and the treatment options available.

scholarly journals Retroperitoneal Tumours - Treatment and Prognosis of Tumour Recurrence

2019 ◽  
Vol 70 (1) ◽  
pp. 190-184 ◽  
Author(s):  
Ovidiu Gabriel Bratu ◽  
Alexandru Ionut Cherciu ◽  
Adrian Bumbu ◽  
Sorin Lupu ◽  
Dragos Radu Marcu ◽  
...  
Keyword(s):  
Tumor Recurrence ◽  
Treatment Options ◽  
Correct Diagnosis ◽  
Tumor Resection ◽  
Rare Condition ◽  
Unknown Origin ◽  
Surgical Excision ◽  
Tumor Grade ◽  
High Volume ◽  
Retroperitoneal Tumors

Retroperitoneal tumors, once considered uncommon, have been reported in the last years in such numbers that they cannot be considered anymore a rare condition. Tumor recurrence following surgical excision is quite common and a tumor that was considered originally as benign in many cases can recur as a malignant tumor. The purpose of this paper is to underline the difficulties in terms of establishing a correct diagnosis and a proper therapeutic protocol when facing a retroperitoneal mass of unknown origin, as well as to present the available data regarding prognosis, treatment options and tumor recurrence. Retroperitoneal tumors can be classified as benign or malignant; solid, cystic or both; single or multiple, and of varied histological types. A high percentage of patients with retroperitoneal tumors are discovered in advanced stages, usually seeking medical help for symptoms related to nearby organ compression/invasion. This pathology requires a prompt and adequate multidisciplinary management, in order to achieve disease control and to reduce the recurrence rate. Complete surgical resection is the potential curative treatment for retroperitoneal tumors and it is best managed in high-volume centers, by a multidisciplinary team. Complete oncological tumor resection and tumor grade remain the most important predictors for local recurrence and disease-specific survival. Further research is required in order to define the role of radiotherapy, as well as to discover new biological therapies that target various molecular pathways involved in retroperitoneal cancers.

scholarly journals Neutrophil Extracellular Traps in Fatal COVID-19-Associated Lung Injury

2021 ◽  
Vol 2021 ◽  
pp. 1-10
Author(s):  
Astrid Obermayer ◽  
Lisa-Maria Jakob ◽  
Jasmin D. Haslbauer ◽  
Matthias S. Matter ◽  
Alexandar Tzankov ◽  
...  
Keyword(s):  
Lung Tissue ◽  
Distress Syndrome ◽  
Clinical Presentation ◽  
Diffuse Alveolar Damage ◽  
Treatment Options ◽  
Neutrophil Extracellular Traps ◽  
Lung Damage ◽  
Morphological Evidence ◽  
Potential Treatment ◽  
Extracellular Traps

An excess formation of neutrophil extracellular traps (NETs), previously shown to be strongly associated with cytokine storm and acute respiratory distress syndrome (ARDS) with prevalent endothelial dysfunction and thrombosis, has been postulated to be a central factor influencing the pathophysiology and clinical presentation of severe COVID-19. A growing number of serological and morphological evidence has added to this assumption, also in regard to potential treatment options. In this study, we used immunohistochemistry and histochemistry to trace NETs and their molecular markers in autopsy lung tissue from seven COVID-19 patients. Quantification of key immunomorphological features enabled comparison with non-COVID-19 diffuse alveolar damage. Our results strengthen and extend recent findings, confirming that NETs are abundantly present in seriously damaged COVID-19 lung tissue, especially in association with microthrombi of the alveolar capillaries. In addition, we provide evidence that low-density neutrophils (LDNs), which are especially prone to NETosis, contribute substantially to COVID-19-associated lung damage in general and vascular blockages in particular.

scholarly journals MULTI-SEPTATE GALLBLADDER, A RARE ANOMALY!

2021 ◽  
Vol 71 (Suppl-1) ◽  
pp. S271-72
Author(s):  
Uzma Zahid ◽  
Alia Rasikh ◽  
Pervez Saleem Qureshi
Keyword(s):  
Clinical Presentation ◽  
Correct Diagnosis ◽  
Rare Condition ◽  
Female Child ◽  
Age Group ◽  
Sonographic Diagnosis ◽  
Rare Anomaly ◽  
Multiseptate Gallbladder ◽  
Associated Conditions

Multiseptate Gallbladder (MSG) is a congenital problem with varing clinical presentation. Its prevelance in peadriatic age group is much less as compared to adults, especially in females, making it a rare condition. Symptoms may be mild or severe, or patient may be completely asymptomatic, with incidental sonographic diagnosis. Exclusion of other associated conditions is also required. Its correct diagnosis is important, so that the patient can be observed for complications including possibility of carcinoma in rare instances. We report here a case of a female child, diagnosed as having Multiseptate gallbladder, at Hearts International Hospital, Rawalpindi, Pakistan . She is being regularly followed in opd.

scholarly journals Asthma in Children and Adults: A Shared Biological and Molecular Basis

1995 ◽  
Vol 2 (suppl a) ◽  
pp. 5A-9A
Author(s):  
Paolo M Renzi
Keyword(s):  
Clinical Presentation ◽  
Age Groups ◽  
Cellular Biology ◽  
Physiological Changes ◽  
Cellular Activation ◽  
Future Studies ◽  
Abnormal Immune Response ◽  
Lung Physiology ◽  
Young Infants

The objective of this paper is to describe the important clinical, physiological, immunological and biological similarities among asthmatic infants, children and adults. A comparison of the reported clinical presentation, physiological changes, histology and cellular biology of asthma in different age groups is presented with special emphasis on the abnormal immune response, cellular activation and lymphokine production. Different age groups of asthmatics have important similarities in clinical presentation, lung physiology and histopathology. Eosinophilia and increased immunoglobulin (Ig) E levels are present at every age except in young infants. Signs of cellular activation and increased production of lymphokines of the type 2 helper T lymphocyte, which can increase IgE levels and affect eosinophils, are also found in every age group. These abnormalities have been shown in animal models to cause airway inflammation and physiological changes comparable with those encountered in asthma. In conclusion, future studies should try to identify the specific characteristics of the population at risk for asthma, emphasizing not only primary prevention but also the use of inhibitors or modulators of the inflammatory reaction that is present in the airways or asthmatics.

scholarly journals Orthodontic Treatment of Bilateral Impacted Mandibular Canines and a Mupparapu Type 2 Transmigration

2019 ◽  
Vol 2019 ◽  
pp. 1-7 ◽  
Author(s):  
José Antonio Vera-Guerra ◽  
José Rubén Herrera-Atoche ◽  
Gabriel Eduardo Colomé-Ruiz
Keyword(s):  
Female Patient ◽  
Alternative Treatment ◽  
Orthodontic Treatment ◽  
Treatment Options ◽  
Rare Condition ◽  
Surgical Removal ◽  
Root Apices ◽  
Complex Cases

Dental transmigration is a rare condition that mainly affects the mandibular canines. Since the tooth involved is usually impacted and its crown has crossed the midline towards the opposite side, the treatment options frequently are surgical removal or radiographic follow-up, and, in some cases, orthodontic traction is possible. In 2002, Mupparapu presented a classification for lower canines in transmigration according to their position within the mandible. This paper is aimed at describing the orthodontic treatment of a female patient with two impacted mandibular canines, one of them in a Mupparapu type 2 transmigration position (horizontal impaction position near the lower mandibular border and below the incisors’ root apices). Additionally, the paper discusses the biomechanical orthodontic design and the alternative treatment options for these complex cases.

scholarly journals Mirizzi syndrome mimicking cholangiocarcinoma. Case report

2020 ◽  
Vol 50 (2) ◽  
Author(s):  
Gabriel Lorente Mitsumoto ◽  
Lucas Augusto Monetta da Silva ◽  
Mauricio Alves Ribeiro ◽  
Mariana Martins Tocchio ◽  
Nátalie Emy Yvamoto ◽  
...  
Keyword(s):  
Weight Loss ◽  
Differential Diagnosis ◽  
Preoperative Diagnosis ◽  
Clinical Presentation ◽  
Surgical Intervention ◽  
Correct Diagnosis ◽  
Rare Condition ◽  
Mirizzi Syndrome ◽  
Biliary Injury ◽  
Review Of The Literature

Mirizzi syndrome (MS) is a rare condition whose clinical presentation is unspecific, with obstructive jaundice being the most common form. MS is often not recognized at initial presentation, which can result in morbidity and biliary injury. Preoperative diagnosis is uncommon and over 50% of patients with MS are diagnosed during surgery. There are no clinical features to distinguish MS from cholangiocarcinoma, except that patients with cholangiocarcinoma are on average ten years older than patients with MS. We report the case of a 51-year-old female patient who presented with jaundice and weight loss. Following investigation with laboratory and imaging exams, the initial diagnosis was Bismuth II cholangiocarcinoma. The patient underwent surgical intervention, and anatomopathological examination of the specimen showed the correct diagnosis to be MS. Despite the rarity of its incidence, physicians must keep MS in mind as a possible differential diagnosis for cholangiocarcinoma and vice-versa. We discuss this case in the context of a brief review of the literature on Mirizzi syndrome mimicking cholangiocarcinoma.

scholarly journals Not Always Asthma: Clinical and Legal Consequences of Delayed Diagnosis of Laryngotracheal Stenosis

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Adam C. Nunn ◽  
S. Ali R. Nouraei ◽  
P. Jeremy George ◽  
Guri S. Sandhu ◽  
S. A. Reza Nouraei
Keyword(s):  
Respiratory Symptoms ◽  
Treatment Options ◽  
Correct Diagnosis ◽  
Delayed Diagnosis ◽  
Rare Condition ◽  
Laryngotracheal Stenosis ◽  
Delay In Diagnosis ◽  
Inflammatory Conditions ◽  
Proper Interpretation ◽  
Legal Consequences

Laryngotracheal stenosis (LTS) is a rare condition that occurs most commonly as a result of instrumentation of the airway but may also occur as a result of inflammatory conditions or idiopathically. Here, we present the case of a patient who developed LTS as a complication of granulomatosis with polyangiitis (GPA), which was misdiagnosed as asthma for 6 years. After an admission with respiratory symptoms that worsened to the extent that she required intubation, a previously well 14-year-old girl was diagnosed with GPA. Following immunosuppressive therapy, she made a good recovery and was discharged after 22 days. Over subsequent years, she developed dyspnoea and “wheeze” and a diagnosis of asthma was made. When she became pregnant, she was admitted to hospital with worsening respiratory symptoms, whereupon her “wheeze” was correctly identified as “stridor,” and subsequent investigations revealed a significant subglottic stenosis. The delay in diagnosis precluded the use of minimally invasive therapies, with the result that intermittent laser resection and open laryngotracheal reconstructive surgery were the only available treatment options. There were numerous points at which the correct diagnosis might have been made, either by proper interpretation of flow-volume loops or by calculation of the Empey or Expiratory Disproportion Indices from spirometry data.

Female Primary Bladder Neck Obstruction: Role of Videourodynamics and Treatment Options in a Rare Clinical Entity

2016 ◽  
Vol 84 (2) ◽  
pp. 109-112
Author(s):  
Enrico Ammirati ◽  
Alberto Manassero ◽  
Alessandro Giammò ◽  
Francesco Marson ◽  
Alberto Gurioli ◽  
...  
Keyword(s):  
Bladder Neck ◽  
Treatment Options ◽  
Correct Diagnosis ◽  
Rare Condition ◽  
Postvoid Residual ◽  
Female Bladder ◽  
Bladder Neck Obstruction ◽  
Primary Bladder ◽  
Primary Bladder Neck Obstruction ◽  
Step Therapy

Introduction Primary female bladder neck obstruction is a rare clinical condition characterized by the absence/incomplete bladder neck opening during the voiding phase of micturition. Methods We present the cases of two women complaining dysuria, abdominal straining and sensation of incomplete bladder emptying. Videourodynamic evaluation was fundamental for a correct diagnosis. Results Videourodynamic evaluation showed a high detrusor pressure during emptying phase, partial use of abdominal strain, very low urine flow rate and significant postvoid residual; imaging showed a defect in the physiological funneling of the bladder neck, absent or incomplete. The first step therapy is represented by oral alpha-blockers and clean intermittent self-catheterization in case of high postvoid residual. Surgical operations, such as bladder neck incision and resection, represent the last option. Conclusions In our experience, bladder neck obstruction is a rare condition in women and only a complete clinical evaluation associated with videourodynamic study can lead to an appropriate diagnosis and treatment.

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