Biomaterial Database

Joubert syndrome. Respiratory failure requiring home mechanical ventilation. 1991

A Mercado, and L Pedraza, and P M Mayol, and R Rodríguez Santana, and C Tejeda

Respiratory Service, San Pablo Medical Center.

A case of Joubert's Syndrome with respiratory insufficiency requiring mechanical ventilatory support is presented. The case illustrates the complex clinical, ethical and technical aspects in the management of patients with this syndrome and the feasibility of extending mechanical ventilatory support to the home setting. A caring, knowledgeable care team and a loving supportive family are required to properly continue treatment in the home in cases of this rare syndrome.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008607	Intellectual Disability	Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)	Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D010348	Patient Care Team	Care of patients by a multidisciplinary team usually organized under the leadership of a physician; each member of the team has specific responsibilities and the whole team contributes to the care of the patient.	Health Care Team,Interdisciplinary Health Team,Medical Care Team,Multidisciplinary Care Team,Multidisciplinary Health Team,Healthcare Team,Care Team, Health,Care Team, Medical,Care Team, Multidisciplinary,Care Team, Patient,Care Teams, Health,Care Teams, Patient,Health Care Teams,Health Team, Interdisciplinary,Health Team, Multidisciplinary,Healthcare Teams,Interdisciplinary Health Teams,Medical Care Teams,Multidisciplinary Care Teams,Multidisciplinary Health Teams,Patient Care Teams,Team, Health Care,Team, Healthcare,Team, Interdisciplinary Health,Team, Medical Care,Team, Multidisciplinary Care,Team, Multidisciplinary Health,Team, Patient Care,Teams, Interdisciplinary Health
D011788	Quality of Life	A generic concept reflecting concern with the modification and enhancement of life attributes, e.g., physical, political, moral, social environment as well as health and disease.	HRQOL,Health-Related Quality Of Life,Life Quality,Health Related Quality Of Life
D012121	Respiration, Artificial	Any method of artificial breathing that employs mechanical or non-mechanical means to force the air into and out of the lungs. Artificial respiration or ventilation is used in individuals who have stopped breathing or have RESPIRATORY INSUFFICIENCY to increase their intake of oxygen (O2) and excretion of carbon dioxide (CO2).	Ventilation, Mechanical,Mechanical Ventilation,Artificial Respiration,Artificial Respirations,Mechanical Ventilations,Respirations, Artificial,Ventilations, Mechanical
D012131	Respiratory Insufficiency	Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them. (Stedman, 25th ed)	Acute Hypercapnic Respiratory Failure,Acute Hypoxemic Respiratory Failure,Hypercapnic Acute Respiratory Failure,Hypercapnic Respiratory Failure,Hypoxemic Acute Respiratory Failure,Hypoxemic Respiratory Failure,Respiratory Depression,Respiratory Failure,Ventilatory Depression,Depressions, Ventilatory,Failure, Hypercapnic Respiratory,Failure, Hypoxemic Respiratory,Failure, Respiratory,Hypercapnic Respiratory Failures,Hypoxemic Respiratory Failures,Respiratory Failure, Hypercapnic,Respiratory Failure, Hypoxemic,Respiratory Failures
D002531	Cerebellum	The part of brain that lies behind the BRAIN STEM in the posterior base of skull (CRANIAL FOSSA, POSTERIOR). It is also known as the "little brain" with convolutions similar to those of CEREBRAL CORTEX, inner white matter, and deep cerebellar nuclei. Its function is to coordinate voluntary movements, maintain balance, and learn motor skills.	Cerebella,Corpus Cerebelli,Parencephalon,Cerebellums,Parencephalons
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D004992	Ethics, Medical	The principles of professional conduct concerning the rights and duties of the physician, relations with patients and fellow practitioners, as well as actions of the physician in patient care and interpersonal relations with patient families.	Medical Ethics
D005808	Genes, Recessive	Genes that influence the PHENOTYPE only in the homozygous state.	Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition