Treatment of infants with craniofacial malformations

2020 ◽  
Vol 106 (1) ◽  
pp. 104-109
Author(s):  
Cornelia Wiechers ◽  
Tabea Thjen ◽  
Bernd Koos ◽  
Siegmar Reinert ◽  
Christian F Poets
Keyword(s):  
Clinical Care ◽  
Growth Failure ◽  
Upper Airway ◽  
Neurological Deficits ◽  
Team Approach ◽  
Feeding Problems ◽  
Craniofacial Malformations ◽  
Increased Risk ◽  
Palatal Plate ◽  
Airway Stenting

Infants with craniofacial malformations (CFMs) are at increased risk of various clinical problems, including respiratory and feeding disorders, the result of which may be long-lasting. An improvement in clinical care can be achieved by prenatal diagnosis and interdisciplinary birth preparation. Feeding problems may particularly be stressful for the family and require a team approach involving nursing staff, speech therapists and nutritional specialists to anticipate, avoid and treat sequelae such as failure to thrive or recurrent aspirations. Special techniques (eg, optimisation of breast feeding, alternative feeding methods or manual orofacial therapy) may be used individually to improve feeding competence; supplemental nutrition via a nasogastric or gastrostomy tube may be temporarily necessary to ensure adequate weight gain. The high prevalence of respiratory disorders in infants with craniofacial abnormalities requires anticipation and screening to prevent growth failure and neurological deficits. Treatment of upper airway obstruction varies widely, strategies can be divided into non-surgical and surgical, and in those aimed at widening the pharyngeal space (eg, prone position, palatal plates, craniofacial surgery) and those bridging the narrow upper airway (eg, nasopharyngeal airway, modified palatal plate, pneumatic airway stenting, tracheostomy). The complex management of an infant with CFM should be performed by a multidisciplinary team to offer specialised support and care for affected families.

scholarly journals Beyond Usual Care: A Multidisciplinary Approach Towards the Treatment of Obstructive Sleep Apnoea

2022 ◽  
Vol 8 ◽  
Author(s):  
Miuni Athauda Arachchige ◽  
Joerg Steier
Keyword(s):  
Obstructive Sleep Apnoea ◽  
Upper Airway ◽  
Sleep Apnoea ◽  
Team Approach ◽  
Cpap Therapy ◽  
Management Options ◽  
Airway Patency ◽  
Obstructive Sleep ◽  
Increased Risk

Obstructive Sleep Apnoea (OSA) is common and characterised by repeated apnoeas and hypopnoeas while asleep due to collapse of the upper airway. OSA can have a significant impact on physical and mental health and, when left untreated, is associated with increased risk of developing cardiovascular ill health. Besides cardiorespiratory implications excessive daytime sleepiness, morning headaches, limited memory function and lack of concentration are some further symptoms caused by OSA. Continuous Positive Airway Pressure (CPAP) therapy is the evidence-based treatment to maintain upper airway patency in patients with moderate to severe OSA. Proper adherence to CPAP therapy successfully abolishes nocturnal apnoeas and hypopnoeas, and diminishes consequences of uncontrolled OSA, such as treatment resistant hypertension. However, long term adherence to CPAP remains an unresolved limitation of this method. Although alternatives to CPAP therapy may be less efficacious, there is a variety of non-CPAP treatments that includes conventional lifestyle advice, postural advice, the use of mandibular advancement devices (MADs), surgical treatment options, such as uvulopalatopharyngoplasty, tonsillectomy, or maxillomandibular advancement, and the use of electrical stimulation of the upper airway dilator muscles. Hypoglossal Nerve Stimulation is available as an invasive (HNS) and a transcutaneous (TESLA) approach. For the management of “difficult-to-treat” patients with OSA, particularly in those in whom first line therapy proved to be unsuccessful, a multidisciplinary team approach may be helpful to incorporate the available options of non-CPAP therapy and provide appropriate choices. Symptom control, patient-related outcome measures and long-term cardiovascular health should be prioritised when choosing long-term therapies to treat OSA. The inclusion of patients in the choice of successful management options of their condition will facilitate better long-term adherence. Advancing clinical trials in the field will further help to resolve the relative lack of evidence for effective non-CPAP methods.

CEREBRAL PALSY:A CLINICAL OVERVIEW

2020 ◽  
Vol 3 (1) ◽  
pp. 54-59
Author(s):  
Nargiza Ergasheva ◽  
◽  
Sardor Anorboev ◽  
Gavkhar Kendjaeva ◽  
Keyword(s):  
Brain Area ◽  
Fetal Brain ◽  
Clinical History ◽  
Screening Tests ◽  
Spastic Diplegia ◽  
Team Approach ◽  
Birth Process ◽  
Increased Risk ◽  
Spastic Quadriplegia ◽  
Magnetic Resonance Imaging Mri

Cerebral palsy (CP) is a disorder characterized by abnormal tone, posture and movement. The incidence of CP is 2–4 per 1,000 live births in the world. Prematurityand low birth weight are important risk factors for CP; however, multiple other factors have been associated with an increased risk for CP, including maternal infections and diseases, and abnormal birth process. In most cases of CP the initial injury to the brain occurs during early fetal brain development, later a brain area that is injured cannot function properly in the future. CP is classified clinically based on the predominant motor syndrome—spastic hemiplegia, spastic diplegia, spastic quadriplegia, ataxic and dyskinetic cerebral palsies. The diagnosis of CPis based on a combination of clinical history, use of standardized neuromotor assessment and findings on magnetic resonance imaging (MRI). If there is a suspicionof genetic or inborn metabolic disorders, screening tests should be provided additionally. Because CP is associated with multiple associated and secondary medical conditions, its management requires a multidisciplinary team approach

CLINICAL CHALLENGES FOR ANESTHESIOLOGIST FACING PATIENT WITH ACROMEGALY. CASE REPORT

2020 ◽  
Vol 30 (3) ◽  
pp. 56-59
Author(s):  
Jūratė Gudaitytė ◽  
Justina Jermolajevaitė ◽  
Martynas Judickas
Keyword(s):  
Atrial Fibrillation ◽  
Case Report ◽  
General Population ◽  
Metabolic Disorders ◽  
Upper Airway ◽  
Cardiovascular Complications ◽  
Case Presentation ◽  
Increased Risk ◽  
Fluid Regulation ◽  
Class Iv

Background and objectives: Acromegaly is endocri­nal disorder which results in changes involving ge­neral appearance as well as upper airway abnorma­lities, cardiovascular and metabolic disorders which can aggravate the anesthesia and can lead to compli­cations. We aim to discuss the challenges for anesthe­siologist that occurs facing patient with acromegaly and are necessary to investigate before performing any kind of intervention. Case Presentation: 79 years old male patient presen­ted the hospital with recently diagnosed acromegaly for rectal prolapse surgery. From anamnesis he had NYHAIII with cardiomyopathy, atrial fibrillation and arterial hypertension, also multiple old compressive fractures Th10 – L5. He was graded with Mallam­pati score IV and ASA class IV. The complemen­tary examinations were made to assess the possible complications. In induction of general anesthesia the intubation was performed using fibro- bronchoscope and anesthesia went without complications except hypotension which was managed. After surgery the patient was leaded to the postoperative room for furt­her monitoring. Discussion and Conclusion: Acromegalic patients have an increased risk of difficulty during anesthe­sia compared to general population due to difficult intubation, cardiovascular complications , OSA , alte­ration in intraoperative glucose intolerance and fluid regulation. Therefore profound investigation and as­sessment are necessary to predict and prepare for possible difficulties in the surgery room.

scholarly journals Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice

2021 ◽  
Author(s):  
Suzanne C. E. H. Sallevelt ◽  
Alexander P. A. Stegmann ◽  
Bart de Koning ◽  
Crool Velter ◽  
Anja Steyls ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Rare Variants ◽  
Clinical Care ◽  
Carrier Testing ◽  
Carrier Status ◽  
Routine Diagnostics ◽  
Affected Offspring ◽  
Pathogenic Variants ◽  
Increased Risk ◽  
Genetics And Genomics

Abstract Purpose Consanguineous couples are at increased risk of being heterozygous for the same autosomal recessive (AR) disorder(s), with a 25% risk of affected offspring as a consequence. Until recently, comprehensive preconception carrier testing (PCT) for AR disorders was unavailable in routine diagnostics. Here we developed and implemented such a test in routine clinical care. Methods We performed exome sequencing (ES) for 100 consanguineous couples. For each couple, rare variants that could give rise to biallelic variants in offspring were selected. These variants were subsequently filtered against a gene panel consisting of ~2,000 genes associated with known AR disorders (OMIM-based). Remaining variants were classified according to American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines, after which only likely pathogenic and pathogenic (class IV/V) variants, present in both partners, were reported. Results In 28 of 100 tested consanguineous couples (28%), likely pathogenic and pathogenic variants not previously known in the couple or their family were reported conferring 25% risk of affected offspring. Conclusion ES-based PCT provides a powerful diagnostic tool to identify AR disease carrier status in consanguineous couples. Outcomes provided significant reproductive choices for a higher proportion of these couples than previous tests.

scholarly journals Diabetes and COVID19: a bidirectional relationship

2021 ◽  
Author(s):  
Ranjit Unnikrishnan ◽  
Anoop Misra
Keyword(s):  
Clinical Care ◽  
Severe Disease ◽  
Respiratory Involvement ◽  
Pancreatic Damage ◽  
Increased Risk ◽  
Bidirectional Relationship ◽  
Rapid Spread ◽  
Relationship Of ◽  
The Relationship ◽  
New Onset

AbstractThe advent and rapid spread of the coronavirus disease-2019 (COVID19) pandemic across the world has focused attention on the relationship of commonly occurring comorbidities such as diabetes on the course and outcomes of this infection. While diabetes does not seem to be associated with an increased risk of COVID19 infection per se, it has been clearly demonstrated that the presence of hyperglycemia of any degree predisposes to worse outcomes, such as more severe respiratory involvement, ICU admissions, need for mechanical ventilation and mortality. Further, COVID19 infection has been associated with the development of new-onset hyperglycemia and diabetes, and worsening of glycemic control in pre-existing diabetes, due to direct pancreatic damage by the virus, body’s stress response to infection (including cytokine storm) and use of diabetogenic drugs such as corticosteroids in the treatment of severe COVID19. In addition, public health measures taken to flatten the pandemic curve (such as lockdowns) can also adversely impact persons with diabetes by limiting their access to clinical care, healthy diet, and opportunities to exercise. Most antidiabetic medications can continue to be used in patients with mild COVID19 but switching over to insulin is preferred in severe disease.

scholarly journals Diabetes and COVID19: a bidirectional relationship

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ranjit Unnikrishnan ◽  
Anoop Misra
Keyword(s):  
Clinical Care ◽  
Severe Disease ◽  
Respiratory Involvement ◽  
Pancreatic Damage ◽  
Increased Risk ◽  
Bidirectional Relationship ◽  
Rapid Spread ◽  
Relationship Of ◽  
The Relationship ◽  
New Onset

AbstractThe advent and rapid spread of the coronavirus disease-2019 (COVID19) pandemic across the world has focused attention on the relationship of commonly occurring comorbidities such as diabetes on the course and outcomes of this infection. While diabetes does not seem to be associated with an increased risk of COVID19 infection per se, it has been clearly demonstrated that the presence of hyperglycemia of any degree predisposes to worse outcomes, such as more severe respiratory involvement, ICU admissions, need for mechanical ventilation and mortality. Further, COVID19 infection has been associated with the development of new-onset hyperglycemia and diabetes, and worsening of glycemic control in pre-existing diabetes, due to direct pancreatic damage by the virus, body’s stress response to infection (including cytokine storm) and use of diabetogenic drugs such as corticosteroids in the treatment of severe COVID19. In addition, public health measures taken to flatten the pandemic curve (such as lockdowns) can also adversely impact persons with diabetes by limiting their access to clinical care, healthy diet, and opportunities to exercise. Most antidiabetic medications can continue to be used in patients with mild COVID19 but switching over to insulin is preferred in severe disease.

Genomics of Acute Myeloid Leukemia Diagnosis and Pathways

2017 ◽  
Vol 35 (9) ◽  
pp. 934-946 ◽  
Author(s):  
Lars Bullinger ◽  
Konstanze Döhner ◽  
Hartmut Döhner
Keyword(s):  
Acute Myeloid Leukemia ◽  
Risk Stratification ◽  
Myeloid Leukemia ◽  
Clinical Care ◽  
Clonal Expansion ◽  
Disease Classification ◽  
Disease Evolution ◽  
Myeloid Neoplasms ◽  
Increased Risk ◽  
Acute Myeloid

In recent years, our understanding of the molecular pathogenesis of myeloid neoplasms, including acute myeloid leukemia (AML), has been greatly advanced by genomics discovery studies that use novel high-throughput sequencing techniques. AML, similar to most other cancers, is characterized by multiple somatically acquired mutations that affect genes of different functional categories, a complex clonal architecture, and disease evolution over time. Patterns of mutations seem to follow specific and temporally ordered trajectories. Mutations in genes encoding epigenetic modifiers, such as DNMT3A, ASXL1, TET2, IDH1, and IDH2, are commonly acquired early and are present in the founding clone. The same genes are frequently found to be mutated in elderly individuals along with clonal expansion of hematopoiesis that confers an increased risk for the development of hematologic cancers. Furthermore, such mutations may persist after therapy, lead to clonal expansion during hematologic remission, and eventually lead to relapsed disease. In contrast, mutations involving NPM1 or signaling molecules (eg, FLT3, RAS) typically are secondary events that occur later during leukemogenesis. Genetic data are now being used to inform disease classification, risk stratification, and clinical care of patients. Two new provisional entities, AML with mutated RUNX1 and AML with BCR- ABL1, have been included in the current update of the WHO classification of myeloid neoplasms and AML, and mutations in three genes— RUNX1, ASXL1, and TP53—have been added in the risk stratification of the 2017 European LeukemiaNet recommendations for AML. Integrated evaluation of baseline genetics and assessment of minimal residual disease are expected to further improve risk stratification and selection of postremission therapy. Finally, the identification of disease alleles will guide the development and use of novel molecularly targeted therapies.

Abstract 18599: Clinical Assessment of Hemodynamic Profiles Predict Readmission and Mortality in Diastolic Heart Failure Patients

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Mohammed Siddiqui ◽  
Salpy V Pamboukian ◽  
Jose A Tallaj ◽  
Michael Falola ◽  
Sula Mazimba
Keyword(s):  
Heart Failure ◽  
Clinical Assessment ◽  
Diastolic Heart Failure ◽  
Clinical Care ◽  
Systolic Heart Failure ◽  
Health Care Expenditures ◽  
Left Ventricular ◽  
Readmission Rates ◽  
Heart Failure Patients ◽  
Increased Risk

Background: Reducing 30 day readmission rates for patients with heart failure (HF) has been a recent focus of lowering health care expenditures. Hemodynamic profiles (HP) have been associated with clinical outcomes in chronic systolic HF. The relationship of HP to outcomes in acute decompensated diastolic HF (DHF) has not been defined. Methods: This case-control study of 1892 DHF patients discharged alive from an academic hospital between 2002-2012 with left ventricular function greater or equal to 45% were categorized into 4 groups: Profile A, no evidence of congestion and hypoperfusion (dry-warm); Profile B, congestion with adequate perfusion (wet-warm); Profile C, congestion with hypoperfusion (wet-cold); and Profile L, hypoperfusion without congestion (dry-cold). All cause readmissions at 30 days and 1 year and mortality at 30 days and 1 year were examined. Statistical analysis using multivariable Cox Proportional hazard model was performed adjusting for demographic, clinical, care and hospital characteristics. Results: Of the 1892 patients, 1196 (63%) were females; mean age was 68 (±14) years. There were 724(38%), 1000 (53%), 88(5%) and 80 (4%) patients in the hemodynamic profiles A, B, C and L respectively. Profiles B and C were associated with an increased risk for 30-day all-cause HF readmission compared to profiles A and L: Hazard ratio (HR) [1.38 (95% C.I 1.17-1.61)], [1.39 (95% C.I 1.18-1.62)] for B and C profiles respectively. Profiles C and L were associated with increased mortality at 1 year: HR [1.46 (95% CI 1.06-1.89)] and [1.31 (95% CI 1.01-1.64)] for A and L profiles respectively (Table). Conclusions: Clinical assessment of HP can help identify DHF patients at increased risk of readmission and mortality, similar to systolic heart failure patients.

The effect of sickle cell anemia on the linear growth of Nigerian children

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Ugo Nnenna Chikani ◽  
Adaobi Bisi-Onyemaechi ◽  
Ijeoma Ohuche ◽  
Justus Onu ◽  
Shalewa Ugege ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Linear Growth ◽  
Clinical Care ◽  
Growth Failure ◽  
Age At Diagnosis ◽  
Height Velocity ◽  
Prospective Longitudinal Study ◽  
High Prevalence ◽  
The Mean ◽  
Prospective Longitudinal

Abstract Objectives Despite the high prevalence of children with sickle cell anaemia (SCA) in West Africa, there is paucity of data on the height velocity and prevalence of growth failure in SCA patients. With advances in clinical care of SCA patients, could there be a spatial and secular trend in the growth pattern of these children? Hence, the compelling needs to embark on this study. The objectives of the study were to determine the prevalence of growth failure among patients with SCA and its correlation with age, gender and age at diagnosis. Methods A Prospective longitudinal study of a cohort of sickle cell anaemic paediatric patients from Pediatrics SCA Clinic, University of Nigeria Teaching Hospital, Ituku Ozalla. Patients were enrolled over a period of two years using a non-parametric convenient sampling method. Their heights were measured at baseline, three months, six months and at 12 months intervals and subsequently plotted on a standard WHO growth chart. The height velocities at different monthly intervals were calculated and compared with the WHO standard normal linear growth rates) for children (used as control) to identify those with GF. (i.e. <10th percentile). The main outcome measures were the mean height velocities at different months' intervals calculated and compared using the repeated measurement analysis of variance (ANOVA) and the Wilcoxon signed test. Results A cohort of 316 children aged 1–18 years with SCA was evaluated with a male preponderance of 161 (57.4%). The mean age and age at diagnosis were 11.04 ± 5.56 and 4.2 ± 1.7 years, respectively. The prevalence of growth failure and short stature was 84.7%. The burden of GF was highest among post-pubertal participants (94.1%). The most important predictor of growth velocity deficit was age (R2=0.045, standard β coefficient = −0.22, t=−03.51, p=0.001). Conclusions The study demonstrated high prevalence of growth failure in children and adolescents with SCA which intensified with advancement in age and older age at diagnosis.

scholarly journals Pattern and Clinical Profile of Congenital Heart Disease in A Teaching Hospital

1970 ◽  
Vol 21 (1) ◽  
pp. 58-62 ◽  
Author(s):  
L Shamima Sharmin ◽  
M Azizul Haque ◽  
M Iqbal Bari ◽  
M Ayub Ali
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Hospital Stay ◽  
Congenital Heart ◽  
Growth Failure ◽  
Female Child ◽  
Feeding Problems ◽  
Medical College ◽  
One Year ◽  
A Prospective Study

Objectives: To see the (a) type of congenital heart disease, (b) Clinical presentation of the cases, (c) association with extra-cardiac anomalies and disease, (d) complications of different CHD, (e) outcome of patients during hospital stay. Methodology: it was a prospective study conducted in the department of pediatrics of Rajshahi Medical College & Hospital over a period of one year.115 children from birth to 12 years of age who had congenital heart disease confirmed by echocardiography were included. All patients were treated conservatively and observed for immediate out come during the hospital stay. Result: major types of CHD were VSD (42.6%), TOF (18.3%), ASD (14.8%), PDA (7.8%). Male outnumbers female child. Common symptoms were breathlessness (60%), fatigue (54.8%), cough (43.5%), poor weight gain (41.7%), recurrent chest infection (34.8%), fever (28.7%), feeding problems (26.1%), palpitation (21.7%) and bluish discoloration of lips and fingertips (20%). Murmur with or without thrill and cardiomegaly was the most important cardiac finding. Frequently observed complications were heart failure, pulmonary hypertension and growth failure.   doi: 10.3329/taj.v21i1.3221 TAJ 2008; 21(1): 58-62

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