Cervical insufficiency
Hung N. Winn, Frank A. Chervenak, Roberto Romero in Clinical Maternal-Fetal Medicine Online, 2021
In a manner similar to preterm labor, pre-eclampsia, small for gestational age, fetal death, and preterm premature rupture of membranes (PROM), the clinical conditions that describe cervical insufficiency can be considered “an obstetrical syndrome” (98). Cervical ripening in the midtrimester may be the result of (i) the loss of connective tissue after a cervical operation such as conization (99–101) or loop electrosurgical excision procedure (LEEP) (101), (ii) a congenital disorder such as cervical hypoplasia after diethylstilbestrol (DES) exposure (102–105), (iii) intrauterine infection (106–108), (iv) a suspension of progesterone action (34,35): there is experimental evidence that progesterone can reverse cervical compliance induced by the administration of dexamethasone to pregnant sheep (109). Moreover, recent studies have indicated that progesterone administration to women with a short cervix can reduce the rate of preterm birth (110,111), or (v) a cervical disorder. Each of these different causes of the syndrome could be affected by genetic or environmental factors (Figure 5) (42). Moreover, more than one mechanism of disease may be operative in a specific patient. The possibility of novel and yet to be discovered mechanisms of disease playing a role must also be considered.
Gilles de la Tourette’s syndrome
David Enoch, Basant K. Puri, Hadrian Ball in Uncommon Psychiatric Syndromes, 2020
It remains difficult to determine the long-term prognosis of the syndrome – the natural history of the disorder with its spontaneous remissions and exacerbations makes evaluation of treatment regimens difficult, especially when based on small numbers of cases. It is certainly not, however, as poor as Gilles de la Tourette himself predicted. Little was known about the risk of suicide in this patient group until the study of de la Cruz et al. (2017), who compared 7,736 patients with Tourette syndrome and chronic tic disorders from the Swedish National Patient Register over the period 1969 to 2013 with general population controls; the patient group were found to have an increased risk of dying by suicide (odds ratio 4.39) and of attempting suicide (odds ratio 3.86); the increased risk remained even after adjustment for psychiatric co-morbidity. In general, however, complete mental deterioration does not usually occur in this patient group, and very rarely does psychosis develop (Jankovic et al., 1984). Nevertheless, there may well be some truth in Gilles de la Tourette’s dictum: Une fois tiqueur, toujours tiqueur.
Pathology and Research
Jeremy R. Jass in Understanding Pathology, 2020
Eventually, however, the deductive application of simple sets of rules must give way to the higher cognitive function represented by inductive reasoning. Based upon a particular underlying principle, it might be hypothesised that several types of neoplasm in fact belong to a ‘family’. This general principle will usually relate to an area of basic biomedical knowledge. For example, a group of neoplasms arising in all manner of sites appeared to be characterised by hormonal function, similar microscopic features, particular biochemical pathways and a common embryological origin. The group was bracketed together as APUDoma (Amine Precursor Uptake and Decarboxylation) (Pearse 1969). Although these tumours are still conceived as a ‘family’, the underlying premises for their categorisation turned out to be only partially correct. Different diseases may also be grouped when they are observed to occur together more frequently than one might expect on the basis of their occurrence in the general population. The coincidence of two or more diseases in one individual and/or in a single family constitutes a syndrome. When a family is involved, the syndrome is likely to be inherited. Anatomical pathologists have recognised new syndromes with the aid of the powerful dimension of microscopic analysis. This has been achieved through the study of both surgical specimens (Williams, 1965) and autopsy examination (Beckwith, 1969).
Mechanical filtration of the cerebrospinal fluid: procedures, systems, and applications
Published in Expert Review of Medical Devices, 2023
In some AE cases, clinical syndromes are characteristic of their associated antigen-specific autoantibody, but unspecific clinical pictures are also common. While the most common AE are the neuromyelitis optica spectrum disorders and the anti-N-methyl-D-aspartate (NMDA)-receptor encephalitis, the number of AE and associated antibodies described in the last decades has been increasing continuously [25]. Patients may present with a variety of syndromes. In some cases, they may develop rapid and profound deterioration in the level of consciousness and present in a coma or with established focal neurological deficits, causing ventilatory impairment or failure to protect the airway. Treatment of experimental-autoimmune-encephalomyelitis (EAE) mice with CSF exchange enriched with mesenchymal stem cells secretions caused a significant delay in the onset of EAE and amelioration of the clinical symptoms, paralleled by a reduction in axonal damage and demyelination [26].
Treatment strategies, including antibiotics, to target the immune component of rosacea
Published in Expert Review of Clinical Immunology, 2022
Kristen Delans, Katherine Kelly, Steven R. Feldman
The pathophysiology of rosacea is complex and multifaceted. Recent data suggest that a combination of environmental triggers interacting with genetic predisposition to produce the clinical syndrome (see Figure 1). Twin studies have suggested up to a 46% genetic contribution, in accordance with cross-sectional studies concerning family history in rosacea patients [10,11]. Genomic association studies have identified human leukocyte antigen (HLA) alleles and two single-nucleotide polymorphisms (SNPs) associated with rosacea [10,12,13]. Genetic factors interact with environmental and patient factors, including commensal organism overgrowth, UV light exposure, and diet to produce the disease state. Recent studies have also demonstrated a likely contribution of disruption in the skin and gut microbiome to the development of rosacea. A disrupted microbiome is thought to trigger both adaptive and innate immune dysregulation, generating the inflammation that underlies the disease state [14–16]. Existing treatments for rosacea can be broken down into two major categories: topical and systemic. Among the topical options, a further classification into immunologic topical therapy and nonimmune topicals can be made. Non-immunologic topicals include metronidazole, brimonidine, azelaic acid, oxymetazoline [1,4,7,17–24]. Topicals that target immune components of rosacea include ivermectin and minocycline [25–28]. Currently, systemic therapy is limited. Doxycycline remains the only FDA approved regimen to date [29–34].
The serotonin toxidrome: shortfalls of current diagnostic criteria for related syndromes
Published in Clinical Toxicology, 2022
Angela L. Chiew, Nicholas A. Buckley
A syndrome of serotonin “hyperstimulation” called serotonin syndrome was initially described in the 1960s [1]. Since these early descriptions and the proposal of diagnostic criteria, there have been increasing reports of serotonin syndrome with an expanding list of drugs implicated. The true incidence of serotonin syndrome is unknown, and this relates to the challenges that still arise with diagnosis and offending agents. However, the incidence is very much higher if those without “hyperstimulation” but with multiple minor side effects of serotonergic agents are diagnosed as having serotonin syndrome. The term serotonin syndrome is also used to describe moderate to severe serotonin toxicity. A syndrome is a group of signs and symptoms characterizing a group of patients, but this can be done whether or not there is a clear mechanism (e.g., Down’s syndrome versus Chronic Fatigue Syndrome). The use of the term “serotonin syndrome” in settings without a clear serotonergic pathophysiological mechanism is all too common. Using clinical symptom/sign criteria to identify possible cases is only useful when other likely diagnoses are excluded. Identifying novel agents that cause serotonin syndrome from such criteria is only possible if the signs are pathognomonic or at least extremely specific.
Related Knowledge Centers
- Down Syndrome
- Heredity
- Phenotype
- Premenstrual Syndrome
- Toxic Shock Syndrome
- Pathogenesis
- Signs & Symptoms
- Online Mendelian Inheritance In Man
- Wolf–Hirschhorn Syndrome
- Andersen–Tawil Syndrome