Doctors can withdraw life support from baby with rare genetic disorder, says judge

BMJ ◽  
2017 ◽  
pp. j1857 ◽  
Author(s):  
Clare Dyer
JMS SKIMS ◽  
2017 ◽  
Vol 20 (2) ◽  
pp. 104-106
Author(s):  
Javaid Ahmad Bhat ◽  
Moomin Hussain Bhat ◽  
Hilal Bhat ◽  
Mona Sood ◽  
Shariq Rashid Masoodi

Background : Laron & colleagues (1966) reported a rare genetic disorder in Israliei Jewish sublings which was characterized by insensitivity to growth hormone due to abnormality in growth hormone receptor or post receptor signaling pathway.Case Report: We hereby report a case of a 5 year old female child who presented to us with features similar to Laron syndrome. The diagnosis was made & confirmed by various Lab. investigations like low IGF-I levels and managed accordingly. JMS 2017; 20 (2):104-106  


2007 ◽  
Vol 30 (4) ◽  
pp. 65
Author(s):  
K. Mukhida

How do parents cope when their child is ill or dying, when he or she experiences constant pain or suffering? What do parents think of the contributions that medical professionals make to the care of their chronically or terminally ill child? Is it possible for a parent to love a child so much that the child is wished dead? The purpose of this paper is to explore those questions and aspects of the care of chronically or terminally ill children using Mourning Dove’s portrayal of one family’s attempt to care for their ill daughter. A play written by Canadian playwright Emil Sher, Mourning Dove is based on the case of Saskatchewan wheat farmer Robert Latimer who killed his 12 year old daughter Tracy who suffered with cerebral palsy and lived in tremendous pain. Rather than focusing on the medical or legal aspects of the care of a chronically ill child, the play offers a glimpse into how a family copes with the care of such a child and the effects the child’s illness has on a family. Reading and examination of non-medical literature, such as Mourning Dove, therefore serve as a useful means for medical professionals to better understand how illness affects and is responded to by patients and their families. This understanding is a prerequisite for them to be able to provide complete care of children with chronic or terminal illnesses and their families. Nuutila L, Salanterä S. Children with long-term illness: parents’ experiences of care. J Pediatr Nurs 2006; 21(2):153-160. Sharman M, Meert KL, Sarnaik AP. What influences parents’ decisions to limit or withdraw life support? Pediatr Crit Care Med 2005; 6(5):513-518. Steele R. Strategies used by families to navigate uncharted territory when a child is dying. J Palliat Care 2005; 21(2):103-110.


2020 ◽  
Vol 24 (1) ◽  
pp. 105-107
Author(s):  
Sedighe Shahhosseini ◽  
Reza Aminnejad ◽  
Amir Shafa ◽  
Mehrdad Memarzade

Carvajal syndrome is a rare genetic disorder. Patients reporting for surgery pose some difficulties in anesthesia management. In this case report we present the case of a 12-year-old boy, who was a known case of Carvajal syndrome, referred for surgical resection of perianal condyloma. Close monitoring of hemodynamic status is the mainstay of anesthetic considerations in such patients. As in any other challenging scenario, it should be kept in mind that ‘there is no safest anesthetic agent, nor the safest anesthetic technique; there is only the safest anesthesiologist’. Citation: Shahhosseini S, Aminnejad R, Shafa A, Memarzadeh M. Anesthesia in Carvajal syndrome; the first case report. Anaesth pain intensive care 2020;24(1):___ DOI: https://doi.org/10.35975/apic.v24i1.


VASA ◽  
2008 ◽  
Vol 37 (4) ◽  
pp. 383-385 ◽  
Author(s):  
Katsinelos ◽  
Vasiliadis ◽  
Soufleris ◽  
Chatzimavroudis ◽  
Zavos ◽  
...  

Congenital afibrinogenemia is a rare genetic disorder characterized by the complete absence of functional fibrinogen. We report a 22-year-old female who developed nephrogenic arterial hypertension and intestinal ischemia due to congenital afibrinogenemia-associated angiopathy of large abdominal arteries. We describe, for the first time, the capsule findings and discuss the pathophysiology of this unusual condition.


2019 ◽  
Vol 14 (2) ◽  
pp. 42-48
Author(s):  
N. G. Lyukshina

Pitt–Hoppkins syndrome is rare genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. The syndrome is characterized by specific facial dysmorphism, phychomotor delay, autistic behavior and intellectual disability. Other associated features include ealy-onset myopia, seizures, constipation and hyperventilation-apneic spells. We introduced a clinical case of the patient with molecularly confirmed TCF4 variant and previously undescribed combination with syndrome of the electrical status epilepticus during sleep.


2019 ◽  
Vol 9 (4) ◽  
Author(s):  
Veronica Arora ◽  
Sunita Bijarnia-Mahay ◽  
Samarth Kulshreshtra ◽  
Kanika Singh ◽  
Ratna Dua Puri ◽  
...  

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