Faculty Opinions recommendation of The right to ignore genetic status of late onset genetic disease in the genomic era; Prenatal testing for Huntington disease as a paradigm.

Author(s):  
Giovanni Neri
2020 ◽  
Vol 3 ◽  
pp. 1
Author(s):  
Ramiro José Daud ◽  
Horacio Freile ◽  
Mauricio Freile ◽  
Soledad Mariano

A case report on a 49-year-old female with diagnoses of ocular hypertension in her left eye (LE) treated with 250 mg/day acetazolamide for 2 years. During the slit-lamp examination, complete occlusion of both iridocorneal angles was detected. Intraocular pressure (IOP) was 10 and 35 mmHg in the right eye and LE, respectively. Phacotrabeculectomy was performed in the LE. After 1 month of the procedure, the patient developed a slowly progressive miopization from −1 to −3 diopters (D) the following months. Approximately 3 months after surgery, the patient developed an episode of acute pain, athalamia, and IOP 45 mmHg in her LE. Late-onset malignant glaucoma was suspected and the patient was treated with topical hypotensive and cycloplegic agent until a prompt vitrectomy was performed. Deepening of the anterior chamber and restoration of IOP to normal range was obtained after surgery.


2021 ◽  
Vol 11 (3) ◽  
pp. 299
Author(s):  
Yeong Jin Kim ◽  
Tae-Young Jung ◽  
In-Young Kim ◽  
Shin Jung ◽  
Kyung-Sub Moon

Postoperative complications after brain tumor surgery occur occasionally and it is important for clinicians to know how to properly manage each complication. Here, we described a rare case of late-onset, subdural fluid collection localized at the resection cavity that caused motor weakness after convexity meningioma resection, requiring differentiation from an abscess, to help clinicians determine treatment strategies. A 58-year-old right-handed female was admitted to the hospital with a headache and posterior neck pain. Brain computed tomography (CT) scans and magnetic resonance (MR) images showed a homogeneously enhanced, calcified, and multi-lobulated mass adjacent to the right motor strip without perilesional edema. The patient underwent surgery without incident or residual deficit and was discharged from the hospital in good condition. Six weeks after surgery, the patient complained of left arm monoparesis without infection-related symptoms. Brain imaging studies showed a localized fluid collection in the resection cavity with an enhanced margin and perilesional edema. Diffusion restriction was not detected. After three months of conservative treatment without surgery or antibiotics, she recovered from the neurologic deficits, and brain imaging studies showed the spontaneous regression of the fluid collection and perilesional edema. Late-onset, localized fluid collection at the resection cavity, which is similar to an abscess, could occur three to eight weeks after meningioma resection. When there are predisposing factors, including blood components and hemostatic materials in the surgical cavity, it is important for clinicians to understand this type of complication and choose conservative management as a feasible strategy.


Author(s):  
L. J. van ‘t Hof ◽  
L. Pellikaan ◽  
D. Soonawala ◽  
H. Roshani

AbstractIn severe cases of COVID-19, late complications such as coagulopathy and organ injury are increasingly described. In milder cases of the disease, the exact time frame and causal path of late-onset complications have not yet been determined. Although direct and indirect renal injury by SARS-CoV-2 has been confirmed, hemorrhagic renal infection or coagulative problems in the urinary tract have not yet been described. This case report describes a 35-year-old female without relevant medical history who, five days after having recovered from infection with SARS-CoV-2, had an unusual course of acute pyelonephritis of the right kidney and persistent fever under targeted antibiotic treatment. A hemorrhagic ureteral obstruction and severe swollen renal parenchyma preceded the onset of fever and was related to the developing pyelonephritis. Sudden thrombotic venous occlusion in the right eye appeared during admission. Symmetrical paresthesia in the limbs in combination with severe lower back pain and gastro-intestinal complaints also occurred and remained unexplained despite thorough investigation. We present the unusual combination of culture-confirmed bacterial hemorrhagic pyelonephritis with a blood clot in the proximal right ureter, complicated by retinal vein thrombosis, in a patient who had recovered from SARS-CoV-2-infection five days before presentation. The case is suspect of a COVID-19-related etiology.


1987 ◽  
Vol 9 (1) ◽  
pp. 13-14
Author(s):  
Frederick Hecht

Medical genetics is currently enjoying a time of exploration and discovery. Huntington disease has long been of interest in adult medicine. The onset of clinical signs and symptoms is usually delayed until midadulthood. It may seem strange in this context to focus on Huntington disease, but advances in molecular genetics have brought Huntington disease into the purview of pediatrics. These advances in molecular genetics make it possible to detect Huntington disease in a preclinical stage at or even before birth. The molecular approach does not replace prior approaches to Huntington disease but is synergistic and provides a model of the new genetics. Huntington disease is synonymous with Huntington chorea. It is named after George Huntington who, like his father and grandfather before him, studied the disease in families on Long Island, NY. Huntington disease is a more common hereditary disorder than phenylketonuria, which occurs in one of about 10,000 newborns in the United States. By contrast, about one in 2,000 persons is at risk for Huntington disease. Although most cases start clinically in midadulthood, usually between 35 and 42 years of age, there is great variability in age of onset. About 3% of cases are diagnosed as juvenile Huntington disease before the age of 15 years. Late onset is well known after 50 years of age.


2011 ◽  
Vol 4 (2) ◽  
pp. 75-77
Author(s):  
Dong-Seok Oh ◽  
Eun-Seon Park ◽  
Seong-Min Choi ◽  
Byeong-Chae Kim ◽  
Myeong-Kyu Kim ◽  
...  

2010 ◽  
Vol 23 (1) ◽  
pp. 149-154 ◽  
Author(s):  
Shou-Hung Huang ◽  
Shang-Ying Tsai ◽  
Jung-Lung Hsu ◽  
Yi-Lin Huang

ABSTRACTBackground: Few studies have examined alterations of the brain in elderly bipolar patients. As late-onset mania is associated with increased cerebrovascular morbidity and neurological damage compared with typical/early-onset mania, we investigated differences in the volume of various cortical regions between elderly patients with early-onset versus late-onset mania.Methods: We recruited 44 bipolar patients aged over 60 years, who underwent volumetric magnetic resonance imaging at 1.5 T. The analytic method is based on the hidden Markov random field model with an expectation-maximization algorithm. We determined the volume of each cortical region as a percentage of the total intracranial volume. The cutoff age for defining early versus late onset was 45 years.Results: The study participants consisted of 25 patients with early-onset mania and 19 patients with late-onset mania; their mean ages were 65.7 years and 62.8 years, respectively. The demographic variables of the two groups were comparable. The volumes of the left caudate nucleus (p = 0.022) and left middle frontal gyrus (p = 0.013) were significantly greater and that of the right posterior cingulate gyrus (p = 0.019) was significantly smaller in the late-onset group. More patients with late-onset mania had comorbid cerebrovascular disease (p = 0.072).Conclusions: The right posterior cingulate gyrus is smaller and the left caudate nucleus and left middle frontal gyrus are larger in patients with late-onset mania compared with those with early-onset mania. Volumetric change in brain regions may vary in elderly bipolar patients with early and late-onset mania.


2011 ◽  
Vol 5 (11) ◽  
pp. 799-803 ◽  
Author(s):  
Ruchika Kohli-Kochhar ◽  
Geoffrey Omuse ◽  
Gunturu Revathi

Introduction: Neonatal mortality in developing countries is usually due to an infectious cause.  The gold standard of investigation in developing countries is a positive blood culture.  It is important to know the aetiology of neonatal bloodstream infections so that empiric treatment can be effective.  Methodology: We conducted a retrospective clinical audit over ten years between January 2000 until December 2009, looking at the aetiology of both early and late onset neonatal sepsis.  We analysed data from 152 (23%) patient isolates out of 662 suspected cases of neonatal sepsis.  Results: Our study revealed that Gram-positive organisms were the predominant cause of both early and late onset sepsis; the common isolates were Staphylococcus epidermidis (34%) and Staphylococcus aureus (27%).  There were no isolates of group B Streptococcus.  Candida species was isolated only in patients with late onset sepsis (6.9%).  Bacterial isolates were relatively sensitive to the commonly used first- and second-line empiric antibiotics. Conclusion: Gram-positive organisms remain the major cause of neonatal bloodstream infections in our setup.  The findings of this study will guide clinicians in prescribing the right empiric therapy in cases of suspected neonatal sepsis before the definitive culture results are obtained.


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