scholarly journals Critical clinical situations in adult patients with Mucopolysaccharidosis (MPS)

2019 ◽  
Author(s):  
Karolina M Stepien ◽  
A. K. Gevorkyan ◽  
Christian J Hendriksz ◽  
T V Lobzhanidze ◽  
J Pérez-López ◽  
...  
Keyword(s):  
Metabolic Disease ◽  
High Risk ◽  
Surgical Procedures ◽  
Postoperative Care ◽  
Multiple Organ ◽  
Adult Patients ◽  
Systems Management ◽  
Inherited Disorders ◽  
Organ Systems ◽  
Age Range

Abstract Background: Mucopolysaccharidoses (MPS) are rare, inherited disorders associated with enzyme deficiencies that result in glycosaminoglycan (GAG) accumulation in multiple organ systems. Management of MPS is evolving as patients increasingly survive to adulthood and undergo multiple surgeries throughout their lives. As surgeries in these patients are considered to be high risk, this can result in a range of critical clinical situations in adult patients. Results: We discuss strategies to prepare for and manage critical clinical situations in adult patients with MPS, including supporting the multidisciplinary team, preoperative and airway assessments, surgical preparations, and postoperative care. We also present eight critical clinical cases (age range: 21–38 years) from four leading inherited metabolic disease centres in Europe to highlight challenges and practical solutions to optimise the care of adult patients with MPS. Critical clinical situations included surgical procedures, pregnancy and a thrombus in a port-a-cath. Conclusions: Individualised strategies to manage critical clinical situations need to be developed for each patient to compensate for the heterogeneous symptoms that may be present and the potential complications that may occur. These strategies should include input from the wider MDT, and be coordinated by metabolic specialists with expertise in the management of MPS disorders and surgery in adult patients with MPS.

scholarly journals Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

2020 ◽  
Author(s):  
Karolina M Stepien ◽  
A. K. Gevorkyan ◽  
Christian J Hendriksz ◽  
T V Lobzhanidze ◽  
J Pérez-López ◽  
...  
Keyword(s):  
Metabolic Disease ◽  
High Risk ◽  
Surgical Procedures ◽  
Postoperative Care ◽  
Multiple Organ ◽  
Adult Patients ◽  
Systems Management ◽  
Inherited Disorders ◽  
Organ Systems ◽  
Age Range

Abstract Background: Mucopolysaccharidoses (MPS) are rare, inherited disorders associated with enzyme deficiencies that result in glycosaminoglycan (GAG) accumulation in multiple organ systems. Management of MPS is evolving as patients increasingly survive to adulthood and undergo multiple surgeries throughout their lives. As surgeries in these patients are considered to be high risk, this can result in a range of critical clinical situations in adult patients. Results: We discuss strategies to prepare for and manage critical clinical situations in adult patients with MPS, including supporting the multidisciplinary team, preoperative and airway assessments, surgical preparations, and postoperative care. We also present eight critical clinical cases (age range: 21–38 years) from four leading inherited metabolic disease centres in Europe to highlight challenges and practical solutions to optimise the care of adult patients with MPS. Critical clinical situations included surgical procedures, pregnancy and a thrombus in a port-a-cath. Conclusions: Individualised strategies to manage critical clinical situations need to be developed for each patient to compensate for the heterogeneous symptoms that may be present and the potential complications that may occur. These strategies should include input from the wider MDT, and be coordinated by metabolic specialists with expertise in the management of MPS disorders and surgery in adult patients with MPS.

scholarly journals Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Amelie S. Lotz-Havla ◽  
Katharina J. Weiß ◽  
Katharina A. Schiergens ◽  
Theresa Brunet ◽  
Jürgen Kohlhase ◽  
...  
Keyword(s):  
Infusion Pump ◽  
Multiple Organ ◽  
Target Range ◽  
Inherited Disorders ◽  
Intramuscular Injections ◽  
Organ Systems ◽  
Portable Pump ◽  
Syringe Driver ◽  
Total Homocysteine

Abstract Background Cobalamin (cbl)-related remethylation disorders are a heterogeneous group of inherited disorders comprising the remethylation of homocysteine to methionine and affecting multiple organ systems, most prominently the nervous system and the bone marrow. To date, the parenteral, generally intramuscular, lifelong administration of hydroxycobalamin (OHCbl) is the mainstay of therapy in these disorders. The dosage and frequency of OHCbl is titrated in each patient to the minimum effective dose in order to account for the painful injections. This may result in undertreatment, a possible risk factor for disease progression and disease-related complications. Results We describe parenteral administration of OHCbl using a subcutaneous catheter together with a portable infusion pump in a home therapy setting in four pediatric patients with remethylation disorders, two patients with cblC, one patient with cblG, and one patient with cblE deficiency, in whom intramuscular injections were not or no longer feasible. The placement of the subcutaneous catheters and handling of the infusion pump were readily accomplished and well accepted by the patients and their families. No adverse events occurred. The use of a small, portable syringe driver pump allowed for a most flexible administration of OHCbl in everyday life. The concentrations of total homocysteine levels were determined at regular patient visits and remained within the therapeutic target range. This approach allowed for the continuation of OHCbl therapy or the adjustment of therapy required to improve metabolic control in our patients. Conclusions Subcutaneous infusion using a subcutaneous catheter system and a portable pump for OHCbl administration in combined and isolated remethylation disorders is safe, acceptable, and effective. It decreases disease burden in preventing frequent single injections and providing patient independence. Thus, it may promote long-term adherence to therapy in patients and parents.

scholarly journals Tuberous sclerosis complex, Serbian referral center experience

2019 ◽  
Vol 76 (8) ◽  
pp. 817-821 ◽  
Author(s):  
Ana Kosac ◽  
Nebojsa Jovic
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autism Spectrum ◽  
Multiple Organ ◽  
First Year ◽  
Exact Test ◽  
Organ Systems ◽  
Clinical Records ◽  
First Year Of Life ◽  
Age Range

BackgroundAim. Common features of tuberous sclerosis complex (TSC) arise from the formation of hamartomas both in the brain and multiple organ systems, mainly due to a mutation in one of two genes, TSC1 or TSC2, with well described inter- and intrafamilial different phenotypic outcomes. The aim of this work was to make a synthesis of the patients data with diagnosed tuberous sclerosis in order to better understand the disease in our environment. Methods. We reviewed retrospectively the clinical records of all patients with TSC, diagnosed and regularly followed at the Clinic of Neurology and Psychiatry for Children and Youth in Belgrade, Serbia during the period of more than two decades. Statistical analyses were performed using descriptive statistics as well as the Fisher?s exact test. Results. Cohort of 44 patients with the diagnosis of definitive TSC were included. The mean age at last follow-up was 19.4 years [age range 1?58, standard deviation (SD) 11.8]. Family history for TSC was noted in 25% of patients. Dermatological manifestations were described in 93.2%, retinal astrocytoma and cardiac rhabdomyomas was found in 36.4% each, nephrological manifestations in 34.1% and lymphangioleiomyomatosis was diagnosed in two female patients. All patients presented with the structural lesions of central nervous system; epilepsy was diagnosed in 88.6%, out of whom 59 % of patients had seizure onset in the first year of life. The West syndrome was diagnosed in 27.3% of patients. Complete seizure control was achieved in 30.8%, in a majority with valproic acid or cabamazepine, but also with topiramate, lamotrigine and vigabatrin. At least two antiepileptic drugs were administered in 82% of patients. Mental retardation was noted in 50% of patients. Psychiatric manifestations were found in 40.9%, with attention deficit hyperactivity disorder diagnosed in 27.3%, autism spectrum disorder in 13.6 %, and psychosis and depression observed in 11.4% each. Conclusion. This kind of synthesis of the data certainly contributes to better understanding of the disease in our environment, as TSC, although well-known disease, still remains diagnostic and therapeutic challenge in daily clinical practice.

The Diabetes Index and Physical Activity Practice: A Literature Review

2021 ◽  
Author(s):  
Cristianne Confessor Castilho Lopes
Keyword(s):  
Physical Activity ◽  
Diabetes Mellitus ◽  
Metabolic Disease ◽  
Selection Process ◽  
Cardiovascular Response ◽  
Multiple Organ ◽  
Moderate Intensity ◽  
Human Beings ◽  
Organ Systems

Diabetes Mellitus is a metabolic disease caused by an excess of glucose in the blood (hyperglycemia), due to the inability of insulin to perform its functions. It is, innumerable times, related to obesity and sedentary lifestyle. Diabetes is a complex metabolic disease that can have devastating effects on multiple organ systems. With this, the objective of the present study was to carry out a systematic review about the effectiveness of the practice of physical activity in the control of glycemia in individuals with Diabetes Mellitus. For this review, searches were performed in the following databases: PubMed, Scielo, LILACS and MEDLINE. The following descriptors were used in Portuguese and Spanish: diabetes mellitus, exercise, type 1 diabetes mellitus and type 2 diabetes mellitus. A total of 252 articles were found with the descriptors mentioned, of which, after the selection process, 13 articles remained for full reading, of which 7 met all the inclusion criteria. Data collection was restricted to clinical research carried out with human beings of both genders in the last 5 years (2015 to 2020). The literature points out as the main form of managing diabetes mellitus, aerobic physical exercise of moderate intensity, which causes positive changes in glycemic control and cardiovascular response.

Microprobe analysis of inclusion bodies related to two benzofuran derivatives

1987 ◽  
Vol 45 ◽  
pp. 672-673
Author(s):  
T. L. Benning ◽  
P. Ingram ◽  
J. D. Shelburne
Keyword(s):  
Inclusion Bodies ◽  
Uranyl Acetate ◽  
Multiple Organ ◽  
High Dose ◽  
En Bloc ◽  
Tissue Samples ◽  
Transmission Electron ◽  
Organ Systems ◽  
Dense Inclusion ◽  
Melanin Complex

Two benzofuran derivatives, chlorpromazine and amiodarone, are known to produce inclusion bodies in human tissues. Prolonged high dose chlorpromazine therapy causes hyperpigmentation of the skin with electron-dense inclusion bodies present in dermal histiocytes and endothelial cells ultrastructurally. The nature of the deposits is not known although a drug-melanin complex has been hypothesized. Amiodarone may also cause cutaneous hyperpigmentation and lamellar lysosomal inclusion bodies have been demonstrated within the cells of multiple organ systems. These lamellar bodies are believed to be the product of an amiodarone-induced phospholipid storage disorder. We performed transmission electron microscopy (TEM) and energy dispersive x-ray microanalysis (EDXA) on tissue samples from patients treated with these drugs, attempting to detect the sulfur atom of chlorpromazine and the iodine atom of amiodarone within their respective inclusion bodies.A skin biopsy from a patient with hyperpigmentation due to prolonged chlorpromazine therapy was fixed in 4% glutaraldehyde and processed without osmium tetroxide or en bloc uranyl acetate for Epon embedding.

Impairment Rating and Spinal Cord Injuries: Revisiting the Guides

2010 ◽  
Vol 15 (3) ◽  
pp. 1-7
Author(s):  
Richard T. Katz
Keyword(s):  
Spinal Cord ◽  
Spinal Cord Injuries ◽  
Functional Independence ◽  
Outcome Data ◽  
Multiple Organ ◽  
Loss Of Function ◽  
Sixth Edition ◽  
Organ Systems ◽  
Cord Injury ◽  
Impairment Ratings

Abstract This article addresses some criticisms of the AMA Guides to the Evaluation of Permanent Impairment (AMA Guides) by comparing previously published outcome data from a group of complete spinal cord injury (SCI) persons with impairment ratings for a corresponding level of injury calculated using the AMA Guides, Sixth Edition. Results of the comparison show that impairment ratings using the sixth edition scale poorly with the level of impairments of activities of daily living (ADL) in SCI patients as assessed by the Functional Independence Measure (FIM) motor scale and the extended FIM motor scale. Because of the combinations of multiple impairments, the AMA Guides potentially overrates the impairment of paraplegics compared with that of quadriplegics. The use and applicability of the Combined Values formula should be further investigated, and complete loss of function of two upper extremities seems consistent with levels of quadriplegia using the SCI model. Some aspects of the AMA Guides contain inconsistencies. The concept of diminishing impairment values is not easily translated between specific losses of function per organ system and “overall” loss of ADLs involving multiple organ systems, and the notion of “catastrophic thresholds” involving multiple organ systems may support the understanding that variations in rating may exist in higher rating cases such as those that involve an SCI.

Renal Manifestations of Tuberous Sclerosis Complex

2020 ◽  
Vol 7 (3) ◽  
pp. 5-19
Author(s):  
Nikhil Nair ◽  
Ronith Chakraborty ◽  
Zubin Mahajan ◽  
Aditya Sharma ◽  
Sidarth Sethi ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Gene Disruption ◽  
Treatment Guidelines ◽  
Renal Cysts ◽  
Skin Lesions ◽  
Multiple Organ ◽  
Tsc2 Gene ◽  
Genetic Condition ◽  
Organ Systems

Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors and seizures. TSC can manifests in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.

scholarly journals Attenuation of COVID-19-induced cytokine storm in a young male patient with severe respiratory and neurological symptoms

2021 ◽  
Author(s):  
Christian Muschitz ◽  
Anita Trummert ◽  
Theresa Berent ◽  
Norbert Laimer ◽  
Lukas Knoblich ◽  
...  
Keyword(s):  
Decision Making ◽  
Male Patient ◽  
Young Male ◽  
Standard Of Care ◽  
Multiple Organ ◽  
Cytokine Storm ◽  
Invasive Ventilation ◽  
Organ Systems ◽  
The Central Nervous System

SummarySevere acute respiratory syndrome coronavirus type 2 (SARS-CoV-2), the etiological agent of coronavirus disease 2019 (COVID-19), produces protean manifestations and causes indiscriminate havoc in multiple organ systems. This rapid and vast production of proinflammatory cytokines contributes to a condition termed cytokine storm. A 35-year-old, otherwise healthy, employed, male patient was tested positive for COVID-19. He was admitted to the hospital on disease day 10 due to retarded verbal reactions and progressive delirium. On account of these conditions and the need for noninvasive/invasive ventilation, a combination treatment with baricitinib and remdesivir in conjunction with standard of care was initiated. The cytokine storm was rapidly blocked, leading to a vast pulmonary recovery with retarded recovery of the central nervous system. We conclude that the rapid blockade of the COVID-19-induced cytokine storm should be considered of avail as a principle of careful decision-making for effective recovery.

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