Wednesday, November 15, 2017

Nail Separation



Onycholysis indicates separation of the nail plate from the distal nail bed.

Common causes are 
  • trauma, 
  • chronic exposure to moisture, 
  • hyperhidrosis, 
  • cosmetics, 
  • psoriasis, 
  • fungal infection (distal onycholysis), 
  • atopic or contact dermatitis, 
  • porphyria, 
  • drugs (bleomycin, vincristine, retinoid agents, indomethacin, chlorpromazine [Thorazine]), and 
  • drug-induced phototoxicity from tetracyclines or chloramphenicol.
Beau lines are transverse grooves in the nail plate that represent a temporary disruption of formation of the nail plate. The lines 1st appear a few weeks after the event that caused the disruption in nail growth. A single transverse ridge appears at the proximal nail fold in most 4–6 wk old infants and works its way distally as the nail grows; this line may reflect metabolic changes after delivery.

Clinical Manifestations of Congenital Hypopituitarism.



The child with hypopituitarism is usually of normal size and weight at birth although those with MPHD and genetic defects of the GH1 or GHR gene have birth lengths that average 1 SD below the mean. Children with severe defects in GH production or action are more than 4 SD below the mean by 1 yr of age. Those with less severe deficiencies grow at rates below the 25% for age and gradually diverge from normal height percentiles. Delayed closure of the epiphyses permits growth beyond the normal age when growth should be complete.

Infants with congenital defects of the pituitary or hypothalamus usually present with neonatal emergencies such as apnea, cyanosis, or severe hypoglycemia with or without seizures.

Microphallus in boys provides an additional diagnostic clue.

Deficiency of GH may be accompanied by hypoadrenalism and hypothyroidism.

Prolonged neonatal jaundice is common. It involves elevation of conjugated and unconjugated bilirubin and may be mistaken for neonatal hepatitis.

The head in the toddler is round, and the face is short and broad. The frontal bone is prominent, and the bridge of the nose is depressed and saddle-shaped. The nose is small, and the nasolabial folds are well developed. The eyes are somewhat bulging. The mandible and the chin are underdeveloped, and the teeth, which erupt late, are frequently crowded. The neck is short, and the larynx is small. The voice is high-pitched and remains high after puberty. The extremities are well proportioned, with small hands and feet. Weight for height is usually normal, but an excess of body fat and a deficiency of muscle mass contributes to a pudgy appearance.

Clinical Manifestations of Acquired Hypopituitarism



The child initially is normal; manifestations similar to those seen in idiopathic pituitary growth failure gradually appear and progress.

When complete or almost complete destruction of the pituitary gland occurs, signs of pituitary insufficiency are present.

Atrophy of the adrenal cortex, thyroid, and gonads results in loss of weight, asthenia, sensitivity to cold, mental torpor, and absence of sweating.

Sexual maturation fails to take place or regresses if already present. There may be atrophy of the gonads and genital tract with amenorrhea and loss of pubic and axillary hair.

There is a tendency to hypoglycemia. Growth slows dramatically. Diabetes insipidus may be present early but tends to improve spontaneously as the anterior pituitary is progressively destroyed.

Clinical Features of Cystic Fibrosis



The clinical features of cystic fibrosis are summarized below:

Respiratory Tract.Cough is the most constant symptom of pulmonary involvement. At first, the cough may be dry and hacking, but eventually it becomes loose and productive. In older patients, the cough is most prominent on arising in the morning or after activity. Expectorated mucus is usually purulent. Some patients remain asymptomatic for long periods or seem to have prolonged but intermittent acute respiratory infections. Others acquire a chronic cough in the 1st weeks of life, or they have pneumonia repeatedly.

Extensive bronchiolitis is attended by wheezing, which is a frequent symptom during the 1st years of life. As lung disease slowly progresses, exercise intolerance, shortness of breath, and failure to gain weight or grow are noted. Exacerbations of lung symptoms, presumably owing to more active airways infection, eventually require repeated hospitalizations for effective treatment.

Cor pulmonale, respiratory failure, and death eventually supervene unless lung transplantation is accomplished. Colonization with Burkholderia cepacia and other multidrug-resistant organisms may be associated with particularly rapid pulmonary deterioration and death.

Early physical findings include increased anteroposterior diameter of the chest, generalized hyperresonance, scattered or localized coarse crackles, and digital clubbing. Expiratory wheezes may be heard, especially in young children.

Even though the paranasal sinuses are virtually always opacified radiographically, acute sinusitis is infrequent. Nasal obstruction and rhinorrhea are common, caused by inflamed, swollen mucous membranes or, in some cases, nasal polyposis. Nasal polyps are most troublesome between 5 and 20 yr of age.

Sunday, November 12, 2017

Endocardial Cushion Defect - Pathophysiology, Clinical findings And Management



Pathophysiology

– When both ASDs and VSDs occur, which are contiguous, and the atrioventricular valves are abnormal
Left-to-right shunt at both atrial and ventricular levels; some right-to-left shunting with desaturation (mild, intermittent cyanosis)
Atrioventricular valve insufficiency –+ increase volume load on one or both ventricles; early heart failure, infections, minimal cyanosis, hepatomegaly, and failure to thrive.

Physical examination

Heart failure early in infancy (hepatomegaly, failure to thrive)
Eisenmenger physiology occurs earlier
– Moderate-to-severe increase in heart size with hyperdynamic precordium (precordial bulge and lift)
– Loud S1 widely fixed split S2 (like an isolated ASD)
Pulmonary systolic ejection murmur, low-pitched diastolic rumble at left sternal border and apex; may also have mitral insufficiency (apical harsh holosystolic murmur radiating to left axilla).

Clinical Features of Diseases Caused by Shigella



Bacillary dysentery
is clinically similar regardless of infecting serotype; however, there are some clinical differences, particularly relating to the greater severity and risk for complications with S. dysenteriaeserotype 1 infection.

Incubation Period:
Ingestion of shigellae is followed by an incubation period of 12 hr to several days before symptoms ensue.

Clinical Manifestations:
Severe abdominal pain, high fever, emesis, anorexia, generalized toxicity, urgency, and painful defecation characteristically occur. Physical examination at this point may show abdominal distention and tenderness, hyperactive bowel sounds, and a tender rectum on digital examination.

The diarrhea may be watery and of large volume initially, evolving into frequent small-volume, bloody mucoid stools; most children (>50%) never progress to the stage of bloody diarrhea, whereas in others the 1st stools are bloody. Significant dehydration related to the fluid and electrolyte losses in both feces and emesis can occur. Untreated diarrhea may last 1–2 wk; only about 10% of patients have diarrhea persisting for more than 10 days.

Neurologic findings are among the most common extraintestinal manifestations of bacillary dysentery, occurring in as many as 40% of hospitalized infected children. Enteroinvasive E. coli can cause similar neurologic toxicity. Convulsions, headache, lethargy, confusion, nuchal rigidity, or hallucinations may be present before or after the onset of diarrhea. The cause of these neurologic findings is not understood.