Patterns of Inheritance: Mendelian and Non-Mendelian
Merlin G. Butler, F. John Meaney in Genetics of Developmental Disabilities, 2019
In addition to the typical Mendelian forms of inheritance, non-Mendelian forms of inheritance do occur and are significant causes of morbidity and mortality as well as for developmental delay and mental retardation. There are at least three non-Mendelian forms of inheritance: mitochondrial, genomic imprinting, and trinucleotide repeats. Mitochondrial diseases are due to mutations of the mitochondrial genome found in the cytoplasm and present in every cell. These diseases vary in age of onset and severity. The mitochondrial genome is inherited from the mother, and thus, is maternally transmitted. Mitochondrial DNA mutations are increasingly recognized as playing a role in neurological and muscle dysfunction. The mutations generally impact on energy expenditure and cellular metabolism and individually are rare but collectively account for an increased number of recognized diseases and pathophysiology. Mitochondrial diseases will be discussed in more detail elsewhere.
The Role of the Psychologist in Life Care Planning
Roger O. Weed, Debra E. Berens in Life Care Planning and Case Management Handbook, 2018
Motor impairments involving paralysis, paraplegia, or tetraplegia are only one of the prominent challenges that individuals with spinal cord injury experience. Sensory alterations, both numbness/insensitivity and pain syndromes involving radicular, muscular/skeletal, and neuropathic origins are equally frequent. Issues regarding organ system functioning, especially as it relates to bowel and bladder control, respiration, skin integrity, circulation, sexual functioning, and sexuality are also of concern (Fichtenbaum & Kirshblum, 2011). Early psychological reactions often involve dealing with sudden and oftentimes permanent changes in physical capacities. Return to premorbid roles and function at home, work, and community may require changes in routines, including the acceptance and incorporation of adaptive equipment, living with decreased spontaneity/freedom and increased dependency, managing social stigma, reconceptualization of intimacy, changes in body image and self-esteem, and rebuilding a personal sense of control. The roles and relationships of other key people in the person's life may also change, creating additional stressors. Key aspects of psychological support focus on adaptation, personal integrity, and life quality. Age of onset will affect course and outcome.
Mitochondrial Dysfunction and Hearing Loss
Shamim I. Ahmad in Handbook of Mitochondrial Dysfunction, 2019
This disease is very heterogenous with variable clinical phenotype. The age of onset is also variable. The patients have a number of clinical manifestations: Sensorineural bilateral and progressive HL, cataracts and other ophthalmological features as ophthalmoplegia, hemianopsia and cortical blindness, cardiovascular abnormalities: left ventricular hypertrophy with dysfunction, heart failure, Wolf-Parkinson-White syndrome and hypertension. The patients have also episodic vomiting, myopathy, ragged-red fibers, migraine, epilepsy, hemiparesis, dementia, encephalopathy, stroke-like episodes. The metabolic and endocrine features are lactic acidosis, diabetes mellitus and elevated serum lactate.24,25
Progression risk factors of ulcerative proctitis
Published in Scandinavian Journal of Gastroenterology, 2022
Katarzyna Gaweł, Krzysztof Dąbkowski, Iwona Zawada, Teresa Starzyńska
Another long-term, cohort study on UC progression was published in 1996 by Langholz et al. and included 1161 patients with UC diagnosed between 1979 and 1987. Patients were followed up for a long time – 25 years – to assess the course of the disease. The study analyzed factors, such as age, sex, clinical symptoms at onset, the extent of the inflammatory lesions at diagnosis, treatment and laboratory data. With reference to the earlier available data, the authors observed that changes in the extent of inflammatory lesions are most pronounced in the first 10 years after diagnosis. They concluded that patients with inflammation confined to the rectum should be monitored regularly due to the risk of progression to extensive disease. They also found out that during the course of the disease the appearance of new proctitis symptoms that were absent at the time of diagnosis, such as abdominal pain and diarrhea, was associated with disease extension. This suggests that new symptoms should be a signal for closer observation and escalation of treatment to prevent further parts of the large intestine from being involved. Like Farmer et al., they confirmed that older age at onset is usually associated with a mild course and a better prognosis [3,7]. It should be underlined that, these two studies base on radiological, not endoscopic findings what limits their diagnostic quality.
Diagnosis and treatment of pudendal and inferior cluneal nerve entrapment syndrome: a narrative review
Published in Acta Chirurgica Belgica, 2022
Katleen Jottard, Pierre Bonnet, Viviane Thill, Stephane Ploteau, Stefan de Wachter
PN and/or cluneal nerve entrapment can cause a chronic neuropathic pain syndrome related to a loss of mobility of the nerves over their course which induces compression [1,2]. Pudendal and cluneal neuralgia coexist in 25% of patients [6]. The age of onset is in adult life, often without a clear etiology. The typical presentation of this pain syndrome is neuropathic pain, exacerbated in the sitting position in the sensitive areas previously described. Patients report a significant reduction or disappearance of pain during standing and in the decubitus position. Pain can be unilateral or bilateral. Because of the chronicity of this pain syndrome, patients often develop a peripheral and central sensitization due to an increase in the excitability of peripheral nerve fibers and the central nervous system so that normal inputs evoke exaggerated responses [9,10]. This is manifested in patients as allodynia or hyperalgesia. Furthermore, a pelvic hypersensitivity, partially related to muscular contractions, can enlarge the syndrome to a real pelviperineal pain syndrome causing urinary, sexual or defecation problems, making diagnosis even more challenging. Patients can also describe a feeling of rectal or vaginal foreign body.
Obsessive-compulsive symptoms in schizophrenia patients and their first-degree relatives and the association with subclinical psychotic symptoms
Published in Nordic Journal of Psychiatry, 2022
Barış Sancak, Güliz Özgen Hergül
The results of this study should be evaluated in light of certain limitations. Firstly, the complex drug treatment regimens used by the patients may have influenced our results. Recruiting CMHC patients may have obscured some clinical variables, as these patients are generally a homogeneous group with good treatment adherence and less frequent acute psychotic symptoms. This may have caused the results to seem ‘healthier’ than reality. Another limitation of our study is that the sample of relatives we selected is heterogeneous. The random selection of relatives may have affected the results of our study, as it creates differences in terms of age, life events, and genetic similarity. Another limitation of our study is that we have to evaluate certain data such as ‘age of onset’ according to the information provided by the patients. This partially high result (age of onset: 26.9) may be due to the incorrect recall of the elderly patients participating in our study and the fact that the cases living in rural areas often apply for treatment many years after the onset of schizophrenia. Finally, this research was designed as cross-sectional study. Considering that OCS may vary periodically as psychotic symptoms do, it may be beneficial to reproduce these results in longitudinal follow-up studies.
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