scholarly journals Anesthetic considerations of Joubert syndrome in patients with mitochondrial disease - A case report -

2021 ◽  
Author(s):  
Jeong Yeon Kim ◽  
Koun Jeong ◽  
Ki Seob Han ◽  
Ji Eun Park ◽  
Mun Gyu Kim ◽  
...  
Keyword(s):  
Mitochondrial Disease ◽  
Elective Surgery ◽  
Joubert Syndrome ◽  
Peritoneal Dialysis Catheter ◽  
Congenital Diseases ◽  
Multiple Organs ◽  
Anesthetic Drugs ◽  
Wide Range ◽  
Anesthetic Considerations ◽  
Present Characteristic

BackgroundJoubert syndrome and mitochondrial disease are rare congenital diseases in which a wide range of symptoms affects multiple organs. Patients with these diseases present characteristic symptoms related to the musculoskeletal, respiratory, and neurological systems, which make it difficult for anesthesiologists to manage the patient’s airway and choose appropriate anesthetic drugs. Case A 13-year-old male patient with Joubert syndrome and mitochondrial disease underwent elective surgery to insert a continuous ambulatory peritoneal dialysis catheter. Anesthesia was induced and maintained with propofol, remifentanil, and rocuronium. An I-gel was inserted to secure the airway; however, the fitting did not work properly, so the patient was intubated. The operation was completed without any major problems, and the intubated patient was transferred to the intensive care unit. ConclusionsAnesthesiologists should determine the method of anesthesia and prepare for unintended complications based on a full understanding of these congenital diseases.

scholarly journals Anesthetic Management of a Child With Unspecified Mitochondrial Disease in an Outpatient Dental Setting

2017 ◽  
Vol 64 (1) ◽  
pp. 33-38 ◽  
Author(s):  
Taylor R. Gordon ◽  
Richard J. Montandon
Keyword(s):  
Mitochondrial Disease ◽  
Anesthetic Management ◽  
Metabolic Dysfunction ◽  
Unique Challenge ◽  
Anesthetic Drugs ◽  
Metabolic Compensation ◽  
Clinical Presentations ◽  
Organ Systems ◽  
Wide Range ◽  
History Of

Mitochondrial disease (MD) represents a category of metabolic disorders with a wide range of symptoms across a variety of organ systems. It occurs with an incidence of greater than 1:5000 and can be difficult to specifically diagnose because of the variety of clinical presentations and multiple genomic origins. Although phenotypically variable, MD symptoms often include hypotonia, cardiac defects, dysautonomia, and metabolic dysfunction. Mitochondrial disease presents a unique challenge in terms of anesthetic management, as many anesthetic drugs suppress mitochondrial function. Additional considerations may need to be made in order to evaluate the patient's metabolic compensation prior to surgery. This article presents an in-depth discussion of a case involving a nearly 10-year-old boy with a history of an unspecified form of MD, who presented for endodontic treatment of tooth No. 30 under deep sedation. The article also provides a thorough review of the current literature surrounding the anesthetic management of patients with MD.

scholarly journals MANAGEMENT OF ENDOCRINE DISEASE: Pituitary tumour apoplexy

2015 ◽  
Vol 172 (5) ◽  
pp. R179-R190 ◽  
Author(s):  
Cristina Capatina ◽  
Warrick Inder ◽  
Niki Karavitaki ◽  
John A H Wass
Keyword(s):  
Elective Surgery ◽  
Visual Fields ◽  
Clinical Manifestations ◽  
Pituitary Tumour ◽  
Clinical Syndrome ◽  
Electrolyte Balance ◽  
Pituitary Mass ◽  
Optimal Care ◽  
Wide Range

Pituitary tumour apoplexy (PA) is a rare clinical syndrome that occurs as a result of acute haemorrhage and/or infarction within a frequently undiagnosed pituitary tumour. The sudden enlargement of the pituitary mass undergoing PA is responsible for a wide range of acute symptoms/signs (severe headache, visual loss, diplopia, hypopituitarism, impaired consciousness) which, together with the radiological evidence of a pituitary lesion, establish the diagnosis. The optimal care of PA requires involvement of a multidisciplinary team including endocrinologist, neurosurgeon, neuroophthalmologist and the management strategy that depends on the clinical manifestations, as well as the presence of co-morbidities. Prompt surgical decompression is initially indicated in cases with severe or progressive impairment of the visual acuity or the visual fields or with altered mental state and leads to visual and neurological recovery in most of the patients. The patients with mild, stable clinical picture (including those with isolated ocular palsies) can be managed conservatively (support of fluid and electrolyte balance and stress doses of steroids in most cases) with favourable visual and neurological outcome. Frequent reassessment is mandatory because the clinical course can be unpredictable; if progression of symptoms occurs, later elective surgery is indicated and is beneficial, especially in terms of visual outcome. The endocrinological outcome is less favourable, irrespective of the treatment option, with many patients remaining on long-term replacement therapy. Despite the above guidelines, clear proof of optimal outcomes in the form of randomised controlled trials is lacking. Regrowth of the pituitary tumour years after a PA episode is possible and patients require long-term surveillance.

scholarly journals Cardiovascular Outcomes in Patients With Mitochondrial Disease in the United States: A Propensity Score Analysis

2021 ◽  
Vol 48 (3) ◽  
Author(s):  
Tran Nguyen ◽  
Talal Alzahrani ◽  
Joseph Krepp ◽  
Gurusher Panjrath
Keyword(s):  
Heart Failure ◽  
Mitochondrial Disease ◽  
Cardiovascular Events ◽  
Propensity Score Analysis ◽  
Genetic Disorders ◽  
Systolic Heart Failure ◽  
The United States ◽  
Major Adverse Cardiovascular Events ◽  
Hospital Death ◽  
Wide Range

Mitochondrial disease comprises a wide range of genetic disorders caused by mitochondrial dysfunction. Its rarity, however, has limited the ability to assess its effects on clinical outcomes. To evaluate this relationship, we collected data from the 2016 National Inpatient Sample, which includes data from >7 million hospital stays. We identified 705 patients (mean age, 22 ± 20.7 yr; 54.2% female; 67.4% white) whose records included the ICD-10-CM code E88.4. We also identified a propensity-matched cohort of 705 patients without mitochondrial disease to examine the effect of mitochondrial disease on major adverse cardiovascular events, including all-cause in-hospital death, cardiac arrest, and acute congestive heart failure. Patients with mitochondrial disease were at significantly greater risk of major adverse cardiovascular events (odds ratio [OR]=2.42; 95% CI, 1.29–4.57; P=0.005), systolic heart failure (OR=2.37; 95% CI, 1.08–5.22; P=0.027), and all-cause in-hospital death (OR=14.22; 95% CI, 1.87–108.45; P<0.001). These findings suggest that mitochondrial disease significantly increases the risk of inpatient major adverse cardiovascular events.

scholarly journals Arl13b and the exocyst interact synergistically in ciliogenesis

2016 ◽  
Vol 27 (2) ◽  
pp. 308-320 ◽  
Author(s):  
Cecília Seixas ◽  
Soo Young Choi ◽  
Noemi Polgar ◽  
Nicole L. Umberger ◽  
Michael P. East ◽  
...  
Keyword(s):  
Kidney Development ◽  
Genetic Interaction ◽  
Joubert Syndrome ◽  
Conditional Knockout ◽  
Multiple Organs ◽  
Conditional Deletion ◽  
Curly Tail ◽  
Adp Ribosylation Factor ◽  
Precise Role

Arl13b belongs to the ADP-ribosylation factor family within the Ras superfamily of regulatory GTPases. Mutations in Arl13b cause Joubert syndrome, which is characterized by congenital cerebellar ataxia, hypotonia, oculomotor apraxia, and mental retardation. Arl13b is highly enriched in cilia and is required for ciliogenesis in multiple organs. Nevertheless, the precise role of Arl13b remains elusive. Here we report that the exocyst subunits Sec8, Exo70, and Sec5 bind preferentially to the GTP-bound form of Arl13b, consistent with the exocyst being an effector of Arl13b. Moreover, we show that Arl13b binds directly to Sec8 and Sec5. In zebrafish, depletion of arl13b or the exocyst subunit sec10 causes phenotypes characteristic of defective cilia, such as curly tail up, edema, and abnormal pronephric kidney development. We explored this further and found a synergistic genetic interaction between arl13b and sec10 morphants in cilia-dependent phenotypes. Through conditional deletion of Arl13b or Sec10 in mice, we found kidney cysts and decreased ciliogenesis in cells surrounding the cysts. Moreover, we observed a decrease in Arl13b expression in the kidneys from Sec10 conditional knockout mice. Taken together, our results indicate that Arl13b and the exocyst function together in the same pathway leading to functional cilia.

Neuromuscular Disorders and Anesthesia

2018 ◽  
Author(s):  
Mariel Manlapaz ◽  
Perin Kothari
Keyword(s):  
Perioperative Management ◽  
Neuromuscular Disorders ◽  
Neuromuscular Diseases ◽  
Tonic Contraction ◽  
Endocrine Dysfunction ◽  
Muscle Involvement ◽  
Disease States ◽  
Anesthetic Drugs ◽  
Anesthetic Considerations ◽  
The Right

The various neuromuscular diseases present with different airway, cardiovascular, pulmonary, and anesthetic considerations. It is useful to categorize these different diseases into nerve, neuromuscular junction, and primary muscle diseases. Understanding their pathophysiology is paramount in choosing the right anesthetic drugs (for example, depolarizing versus nondepolarizing and regional versus general anesthesia). Knowing their manifestations such as autonomic dysfunction, skeletal/cardiac/smooth/bulbar muscle involvement, or tendency for tonic contraction, allows for expectant perioperative management. Finally appreciating their association with certain disease states such as malignant hyperthermia or endocrine dysfunction can prevent complications. A brief review of myotonic dystrophy is presented here, followed by a brief summary of anesthetic considerations for various neuromuscular diseases.

Mitochondrial Disorder for Muscle Biopsy

2013 ◽  
Author(s):  
J. Fay Jou ◽  
Lori A Aronson ◽  
Jacqueline W Morillo-Delerme
Keyword(s):  
Energy Metabolism ◽  
Electron Transport ◽  
Oxidative Phosphorylation ◽  
Mitochondrial Disease ◽  
Electron Transport Chain ◽  
Mitochondrial Disorder ◽  
Metabolic Complications ◽  
Transport Chain ◽  
Increased Risk ◽  
Anesthetic Considerations

Mitochondrial disease (mtD) is a genetically, biochemically, and clinically heterogeneous group of disorders that arise most commonly from defects in the oxidative phosphorylation or electron transport chain involved in energy metabolism. These patients have an increased risk for cardiac, respiratory, neurologic, and metabolic complications from anesthesia. Consequently, there are several anesthetic considerations for patients with mtD.

scholarly journals Anesthesia outside the Operating Room in a Patient with Mitochondrial Disease

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Alejandra Fadrique-Fuentes ◽  
Beatriz Martínez-Rafael ◽  
Rodrigo Poves-Álvarez ◽  
Estefanía Gómez-Pesquera
Keyword(s):  
Mitochondrial Dysfunction ◽  
Operating Room ◽  
Mitochondrial Disease ◽  
Genetic Disorders ◽  
Metabolic Balance ◽  
Anesthetic Agents ◽  
Wide Range

Mitochondrial dysfunction comprehends a wide range of genetic disorders. These patients’ precarious metabolic balance makes its management difficult. Furthermore, the same systems affected by mitochondrial disease can be altered by many of the frequently used anesthetic agents. Each patient has to be evaluated individually according to their comorbidities and anesthetic requirements.

scholarly journals Regulation of Hedgehog Signal Transduction by Ubiquitination and Deubiquitination

2021 ◽  
Vol 22 (24) ◽  
pp. 13338
Author(s):  
Qing Zhang ◽  
Jin Jiang
Keyword(s):  
Signal Transduction ◽  
Transmembrane Protein ◽  
Cubitus Interruptus ◽  
Congenital Diseases ◽  
Gli Proteins ◽  
Family Protein ◽  
Wide Range ◽  
Human Disorders ◽  
Underlying Mechanisms ◽  
Hedgehog Signal

The Hedgehog (Hh) family of secreted proteins governs embryonic development and adult tissue homeostasis in species ranging from insects to mammals. Deregulation of Hh pathway activity has been implicated in a wide range of human disorders, including congenital diseases and cancer. Hh exerts its biological influence through a conserved signaling pathway. Binding of Hh to its receptor Patched (Ptc), a twelve-span transmembrane protein, leads to activation of an atypical GPCR family protein and Hh signal transducer Smoothened (Smo), which then signals downstream to activate the latent Cubitus interruptus (Ci)/Gli family of transcription factors. Hh signal transduction is regulated by ubiquitination and deubiquitination at multiple steps along the pathway including regulation of Ptc, Smo and Ci/Gli proteins. Here we review the effect of ubiquitination and deubiquitination on the function of individual Hh pathway components, the E3 ubiquitin ligases and deubiquitinases involved, how ubiquitination and deubiquitination are regulated, and whether the underlying mechanisms are conserved from Drosophila to mammals.

scholarly journals Loss of Ift74 Leads to Slow Photoreceptor Degeneration and Ciliogenesis Defects in Zebrafish

2021 ◽  
Vol 22 (17) ◽  
pp. 9329
Author(s):  
Panpan Zhu ◽  
Jingjin Xu ◽  
Yadong Wang ◽  
Chengtian Zhao
Keyword(s):  
Cell Death ◽  
Photoreceptor Cell ◽  
Genetic Disorders ◽  
Intraflagellar Transport ◽  
Photoreceptor Degeneration ◽  
Transport Efficiency ◽  
Zebrafish Development ◽  
Multiple Organs ◽  
Wide Range ◽  
Different Types

Cilia are microtubule-based structures projecting from the cell surface that perform diverse biological functions. Ciliary defects can cause a wide range of genetic disorders known collectively as ciliopathies. Intraflagellar transport (IFT) proteins are essential for the assembly and maintenance of cilia by transporting proteins along the axoneme. Here, we report a lack of Ift74, a core IFT-B protein, leading to ciliogenesis defects in multiple organs during early zebrafish development. Unlike rapid photoreceptor cell death in other ift-b mutants, the photoreceptors of ift74 mutants exhibited a slow degeneration process. Further experiments demonstrated that the connecting cilia of ift74 mutants were initially formed but failed to maintain, which resulted in slow opsin transport efficiency and eventually led to photoreceptor cell death. We also showed that the large amount of maternal ift74 transcripts deposited in zebrafish eggs account for the main reason of slow photoreceptor degeneration in the mutants. Together, our data suggested Ift74 is critical for ciliogenesis and that Ift proteins play variable roles in different types of cilia during early zebrafish development. To our knowledge, this is the first study to show ift-b mutant that displays slow photoreceptor degeneration in zebrafish.

scholarly journals PREVALENCE OF SURGICAL SITE INFECTION ASSOCIATED RISK FACTORS IN A TERTIARY CARE HOSPITAL OF VEDANTA INSTITUTE OF MEDICAL SCIENCES

2019 ◽  
Vol 3 (10) ◽  
Author(s):  
Dr. Amit Ramesh Churi
Keyword(s):  
Surgical Site Infection ◽  
Emergency Surgery ◽  
Elective Surgery ◽  
Prophylactic Antibiotics ◽  
Surgical Patients ◽  
Care Hospital ◽  
Site Infection ◽  
Deep Incision ◽  
Surgery Group ◽  
Wide Range

Introduction:  Skin is generally colonised by a wide range of microorganisms that could cause infection. Surgical site infection (SSI) requires evidence of clinical signs and symptoms of infection rather than microbiological evidence alone. SSIs generally affect the superficial tissues, but some more serious infections affect the deeper tissues or other parts of the body manipulated during the surgical procedure.About 5% of patients posted for surgery develop surgical site infections (SSIs), which may cause much morbidity and may sometimes mortality. Treatment of SSIs imposes a substantial financial burden on the health care system. Patients who develop SSI are more likely to spend 60% more time in an Intensive care unit (ICU), they are 5 times as likely to be readmitted and their mortality rate is twice of non-infected patient. But to great surprise 40-60% of these infections are preventable. Material and Methods: A total of 500 patients who had undergone surgical procedure at the teaching hospitalwere studied prospectively. A total of 464(92.8%) elective surgical patients and 36(7.2%) emergency surgical patients were included in the study.Patient information gathered from the data chart, treatment chart and from ward rounds in the hospital. All patients were followed up from the time of admission until the time of discharge and 30 days postoperatively to inspect the incidence of SSI. Wound infection was diagnosed. SSI diagnosed was divided into three categories: Superficial incision SSI, Deep incision SSI and Organ/space SSI. SSI is considered if an infection occurred within 30 days after the operation, if no implant is left in place SSI was considered. Results: In the present study 500 patients were included of which 464(92.8%) were elective surgical patients and 36(7.2%) were emergency surgical patients. Total SSI cases were 41 (8.2%) of which 29 (70.7%) were identified in elective surgery cases and 12 (29.3%) were observed in emergency surgery superficial incision SSI was most prevalent 25 (61%) followed by deep incisional SSI 11(26.8%) and then by organ/space SSI 5(12.2%).Mean age in elective surgery group was 52.4±7.48 and in emergency surgery group was 56.2± 6.78. In elective surgery group there were 296 (63.8%) male and 168 (36.2%) female. In emergency group there were 29 (80.6%) male and 7 (19.4%) female. Prophylactic antibiotics were given to 404 (87.1%) in elective surgery group and 30 (83.3%) in emergency surgery group. SSI rate observed in elective surgery group was 29/464 (6.25%) while in emergency surgery group was 12/36 (33.33%).BMI (Body mass index) in elective surgery group was 28.7 ±2.45and in emergency surgery group was 27.6 ± 2.89. Conclusion: higher incidence of SSI with increasing age of the patient.it was observed that to prevent SSI prophylactic antibiotics should be initiated within one hour before surgical incision. Keywords: SSI, Surgery, Superficial incision SSI, Deep incision SSI, Organ/space SSI

Sign in / Sign up

Export Citation Format

Share Document