Skip to main content

Gaucher’s Disease: Prenatal and Post Natal Diagnostic Dilemma and Elucidating Case Series | Chapter 11 | New Insights into Disease and Pathogen Research Vol. 2

Gaucher’s Disease (GD) is a rare genetically inherited, autosomal recessive disorder. It is classified as a lysosomal storage disorder and is characterized by the accumulation of glycolipids. This is due to the deficiency of lysosomal hydrolase β – glucocerebrosidase. The gene responsible for synthesizing this enzyme is encoded by GBA1 on chromosome 1q21. The 3 clinical subtypes vary widely in their presentation. Moreover the presentation is not specific and mimics several other common and rare conditions. Having a child with GD poses severe psychological burden on the affected child and its family due to the associated morbidity and mortality. Appropriate prenatal diagnostic tests can provide sufficient information to prospective parents to take informed decisions. Case series and Literature Review is presented together with an objective to emphasize that a rare disease like GD can have bad prognosis and that prenatal diagnostics can help in the diagnosis of the disease during intrauterine life, to facilitate making a timely decision. It also highlights the importance of genetic counseling to avoid dismal outcomes. The case series also throw light on the challenges that GD presents in post natal life.

Author(s) Details

Dr. Mohammed Ismail Khan
Department of Obstetrics and Gynaecology (Academic), ESIC Medical College and Hospital, Sanathnagar, Hyderabad, India.

Dr. Swathi Emmadisetty
Department of Obstetrics and Gynaecology, ESIC Medical College and Hospital, Sanathnagar, Hyderabad, India.

Dr. Asna Yasmeen
Mesco College of Pharmacy, Mustaidpura, Hyderabad, India.

Dr. Shahzeb Zaman
Department of Anaesthesiology, Shadan Institute of Medical Sciences, Peerancheru, Hyderabad, India.

Read full article: http://bp.bookpi.org/index.php/bpi/catalog/view/71/855/653-2
View Volume: https://doi.org/10.9734/bpi/nidpr/v2
Labels:

Comments

Post a Comment

Popular posts from this blog

A Prospective Study about Safety and Efficacy of Perioperative Lidocaine Infusion | Chapter 09 | New Horizons in Medicine and Medical Research Vol. 8

 Opioids cause clinically significant side effects such as respiratory depression, immunosuppression, muscle rigidity, negative inotropism, nausea, vomiting, hyperalgesia, urine retention, postoperative ileus, and drowsiness. Perioperative opioids are a major contributor to the United States' and other countries' opioid epidemics. Non-opioid analgesics, particularly lidocaine, are becoming more common for perioperative use as a result of this. A total of 185 adult patients were randomly assigned to one of two groups: control group I (105 patients) [fentanyl group] or group ii (80 patients) [opioid-free anaesthesia group]. Lidocaine 1.5 mg/kg bolus followed by 1.5 mg/kg/h infusion intraoperatively, and 1.5-2 mg/kg/h infusion for 2-8 hours postoperatively were given to patients in both groups at anaesthetic induction. Intraoperatively, both groups received analgesic adjuvants such as diclofenac 75 mg, paracetamol 1 gm, and mgso4 30-50 mg/kg. If the mean arterial pressure (map)
Post a Comment
Read more

A Brief Study of Middleware Technologies: Programming Applications and Management Systems | Chapter 15 | Novel Research Aspects in Mathematical and Computer Science Vol. 1

  Many platforms, services, applications, hardware, and operating systems are connected through the middleware layer. Because the middleware layer abstracts much low-level complexity and makes applications and software systems portable, it allows disparate systems to interface and function together in harmony. Middleware technologies enable software engineers to swiftly construct software systems and applications, allowing developers to focus on more important tasks. This chapter examines several types of middleware systems and discusses middleware capabilities, middleware operation, middleware's function in cloud-based systems, and the best middleware platforms to use. Middleware systems are widely utilised and can be found in practically any software system or application. Middleware programmes provide as a link between many sorts of systems and protocols. They serve as a mechanism for various systems. To successfully exchange information, it runs on a variety of operating system
Post a Comment
Read more

Patients’ Perspective of Acute Post-operative Pain Management: A Multicentre Survey of Tertiary Hospitals in Maharashtra, India | Chapter 08 | New Horizons in Medicine and Medical Research Vol. 8

 When postoperative pain is adequately controlled, patients' satisfaction and patient-related outcomes (PROs) increase. Understanding the patients' perspective is crucial since it supports in the formulation of improvement strategies. Because wrong attitudes and assumptions might block pain alleviation, patients' attitudes and beliefs are critical. As a result, a multicenter study of patients' attitudes, beliefs, experiences, and satisfaction levels with acute postoperative pain management was done in Maharashtra's tertiary hospitals. In addition, the responses were examined to evaluate if the Acute Pain Service (APS) resulted in improved patient outcomes and satisfaction. A 13-item questionnaire adapted from previous studies was used to capture patients' experiences with postoperative pain treatment. The responses of 179 patients are included in the study. The findings revealed that 91.6 percent of patients experienced postoperative pain, with 75.5 percent
Post a Comment
Read more